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Common Conditions

Abdominal Aortic Aneurysm

What is an abdominal aortic aneurysm?

An abdominal aortic aneurysm (AAA) is a permanent bulging or ballooning in the wall of the main artery extending the length of the abdomen. The aorta, the largest artery in the body, consists of segments. The abdominal aorta is the portion of the artery below the diaphragm that extends through the abdomen before splitting into two smaller arteries. The thoracic aorta is the portion above the diaphragm. The abdominal aorta delivers oxygenated blood to the lower trunk and legs. While an aneurysm can occur anywhere along the length of the aorta, they most commonly occur below the kidneys in the infrarenal abdominal aorta. In addition to location, doctors classify aneurysms as true or false, and by their size and shape. Arteries are muscular tubes with three-layered walls; a true aneurysm involves all three layers, while a false aneurysm, or pseudoaneurysm, is often more likely to burst because it is not contained by all three of the layers. The diameter of the widest part of an aneurysm is measured in centimeters to determine its size. The shape is either fusiform, enlarged all the way around the vessel, or saccular, having a balloon-like enlargement or sac at one place on the circumference of the vessel. Occurring in approximately 6% of women and 15% of men older than 65, abdominal aortic aneurysms cause about 15,000 deaths each year in the United States.

What are the symptoms of an abdominal aortic aneurysm?

Most of the deaths due to an abdominal aortic aneurysm occur from massive internal bleeding when the aneurysm ruptures. An abdominal aortic aneurysm can be dangerous because it may not have any symptoms until it ruptures. The symptoms of an aneurysm that has not yet ruptured may include the following: a pulsating bulge or a strong pulse in the abdomen, abdominal pain, back pain, a feeling of fullness after minimal food intake, nausea, testicular pain, vomiting, or a bruit/whooshing sound with a stethoscope. Some of these symptoms are unspecific making aneurysms difficult to diagnose clinically.

What are the dangers of an untreated or undetected abdominal aortic aneurysm?

When abdominal aortic aneurysms rupture, they often cause massive internal bleeding, which may cause a dangerously reduced blood pressure (circulatory collapse or “shock”). The symptoms of this rupture may include the following: cold sweat, confusion, dizziness, light-headedness, low blood pressure, loss of consciousness, nausea, numbness or tingling, pale skin, rapid heart beat, severe back pain, shortness of breath, and weakness. Any of these symptoms by itself or in conjunction with a previous symptom associated with an aneurysm that has not yet ruptured may indicate a need for immediate emergency medical care. Ruptured aneurysm has a mortality rate of about 70 to 90%, with about half of patients dying before they reach the hospital. Expedient care is essential in cases of ruptured aneurysms. Also a medical emergency, sometimes a piece of a blood clot that formed in the aneurysm will break off and lodge in a blood vessel. Depending on where the blood clot fragment lodges, it can cause a stroke; a heart attack; numbness; weakness; tingling; pallor; arm or leg coldness; light-headedness; localized pain; or problems with the lungs, liver, or kidneys.

What causes an abdominal aortic aneurysm?

Weakening or deterioration of the wall of the abdominal aorta at birth or from disease or injury can make the artery susceptible to a permanent bulge. The proteins collagen and elastin in the middle layer of the artery wall provide strength for the artery. These proteins can gradually deteriorate with age, but a problem with naturally occurring enzymes or inflammation from atherosclerosis can accelerate this process such that even younger people can have weakened arteries. Atherosclerosis is a process by which an artery becomes lined with plaque deposits. Plaque, which is composed of cholesterol, calcium, waste products, and fatty and other substances, can weaken the wall of an artery making it susceptible to an aneurysm. Uncontrolled diabetes can accelerate atherosclerosis. Marfan syndrome and Ehlers-Danlos syndrome are genetically inherited disorders that can cause the middle layer of the artery wall to weaken. Heart valve disease and pregnancy can have the same effects on an artery. High blood pressure can cause a bulge in an artery by putting stress on an already weakened wall. Though rare, some bacterial infections and inflammatory conditions can cause aneurysms. The term mycotic aneurysm refers to an aneurysm caused by a fungal infection of the arteries; this term is also used to describe aneurysms caused by bacterial infections. Psoriasis and rheumatoid arthritis are inflammatory conditions known to occur in the arterial wall. Though several possible causes for aneurysms have been identified, many of the causes of an abdominal aortic aneurysm are still unknown.

What are the risk factors for an abdominal aortic aneurysm?

Ruptured abdominal aortic aneurysms are the thirteenth leading cause of death in the United States. The following risk factors have been correlated with abdominal aortic aneurysms: age older that 55, atherosclerosis, high blood pressure (hypertension), male sex, smoking, and a positive family history for aortic aneurysm.

How is an abdominal aortic aneurysm found and diagnosed?

Because aortic aneurysms often have lack symptoms or have unspecific symptoms, they are often discovered while looking for other problems. A physical examination may detect an aneurysm, but it is more likely that an ultrasound exam, an echocardiogram, a CT scan, an angiogram, or an MRI will be able to reveal a problem. Many of these exams will also show the size of the bulge.

What treatment options are available for an abdominal aortic aneurysm?

While doctors may elect to monitor aneurysms depending on the size, location, growth rate, symptoms, and patient's health, many aneurysms will require treatment. The two treatment options for an abdominal aortic aneurysm that has not yet ruptured include standard open surgery and a less invasive, endovascular aneurysm repair (EVAR).

What are the differences between endovascular aneurysm repair (EVAR) and standard open surgery for an abdominal aortic aneurysm?

Doctors have been performing successful, curative open surgeries to repair abdominal aortic aneurysms for about 50 years with more than 90% of patients making a full recovery from surgery. During open surgery, a surgeon opens the abdomen with a major incision and general anesthesia. He then stops blood flow using a heart and lung machine to provide oxygen to the vital organs so that he can remove the damaged piece of the aorta and replace it with an artificial blood vessel (a Daflon or Teflon graft). This surgery usually involves a seven to ten day hospital stay; a long recovery time; and risks to the heart, brain, lungs, and kidneys. The catheter-based endovascular aneurysm repair is less invasive, faster, has a shorter recovery time, involves fewer complications, and can be performed on some patients with medical conditions that preclude an open surgery. However, this procedure utilizes a specially manufactured endovascular graft that will not work for all patients. Additionally, the durability and long term affects of the procedure are uncertain. Though endovascular repair has a lower complication rate than open surgery, one common complication is called endoleak. Endoleak occurs when blood leaks back into the aneurysm despite the new graft. In the endovascular aneurysm repair, the surgeon uses x-ray guidance to deliver a special graft to the aneurysm through a small incision in the groin. Once in place, the heat-activated graft expands in the artery and small metal hooks hold it firmly in place.

Angina Pectoris

Angina, also known as angina pectoris, refers to pain originating from the heart. This sensation may be felt as chest pain or pressure in the chest. Most often, there is a feeling of tightness in the chest, which may spread to the neck, jaw, shoulders, and occasionally one or both arms possibly as far down as the hands. Some conditions even involve the upper abdomen. The sensation of suffocation and even impending death frequently accompanies an attack of angina.

The painful condition occurs when the heart muscle tissue does not receive enough oxygen, especially during periods of exercise or excitement. Coronary heart disease and coronary spasms are usually the cause of angina, for these conditions restrict the flow of blood to the heart and result in an oxygen deficit for the heart muscle tissue. An attack of angina pectoris is not a heart attack; however, it signals the presence of conditions that could lead to a heart attack.

Angina pectoris may be treated through a number of lifestyle changes. Weight loss helps to reduce the strain on the heart. Hypertension must be brought under control. Smoking must cease and a program of routine, moderate exercise initiated. All of these lifestyle changes have positive effects upon circulation to the heart; thereby, reducing the incidence or severity of angina episodes.

Often medications may be prescribed. Nitroglycerine may help to ease the pain during an angina attack. Beta-blocker medications also reduce chest pain by reducing the amount of oxygen the heart muscle requires and regulating the heart rate. Calcium channel blocker medications are also proving useful in controlling angina.

Arrhythmia

An arrhythmia is an irregularity in the pace at which the heart beats that in turn causes a variation in the pulse rate. Sinus arrhythmias are common in children and associated with variances in the pulse rate as breathing changes. The activity of the vagus nerve is affected by breathing, and the change in vagal nerve activity is reflected in changes in the pulse rate. In most cases, sinus arrhythmias are mild and do not require treatment.

Other types of arrhythmia may be more serious and require medical evaluation and treatment. The following are the common types of arrhythmia:

  • Artrial fibrillation is the extremely rapid, irregular twitching of the muscle tissue of the heart's atrial (upper) chambers.
  • Bradycardia is a pulse rate that is too slow.
  • Tachycardia is a pulse rate that is too rapid.

Arteriosclerosis / Atherosclerosis

Arteriosclerosis is a disorder characterized by a progressive thickening and hardening of the walls of the arteries. This condition is often called "hardening of the arteries." The hardening and thickening of the arteries causes a decrease in the blood circulation through the affected vessel and affects the organs it serves.

Atherosclerosis is the accumulation of fatty deposits (plaque) on the interior lining of the arterial walls. This plaque accumulation impedes the flow of blood. If the accumulation becomes too great, it may cause a complete blockage of blood flow through the artery, in turn, leading to damage to the tissues served by the affected blood vessel.

Although the onset of atherosclerosis is thought to be part of the normal aging process, other factors increase its likelihood and severity. These factors include hypertension, cigarette smoking, obesity, diabetes, elevated serum cholesterol levels, inactivity, and family predisposition.

There is no known cure for atherosclerosis. Making positive life style changes to reduce the impact of cardiac risk factors such as obesity, cigarette smoking, inactivity, and diet to reduce serum cholesterol levels are the best means of minimizing the effects of atherosclerosis.

Cardiomyopathy

What is cardiomyopathy?

Cardiomyopathy is any disease or condition that changes the structure of or weakens the heart muscle.  “Cardio” refers to the heart, “myo” refers to muscle, and “pathy” refers to disease.  The heart muscle can either be enlarged, abnormally thick, rigid, or replaced with scar tissue.  Often, the result of cardiomyopathy is heart failure, a condition in which a modified heart muscle is unable to pump an adequate amount of blood to the rest of the body.

What is dilated cardiomyopathy?

Doctors classify cardiomyopathies based on what causes them and what changes occur in the heart muscle structure.  Dilated cardiomyopathy, the most common form, usually initiates in the lower area of the left ventricle in the heart.  The left ventricle is the largest, strongest chamber of the heart because it pumps oxygenated blood out to the body.  When the body does not get enough blood, the heart muscle may respond by dilating.  The inside area of this ventricle enlarges as the muscle surrounding it stretches and thins (dilates).  A dilated ventricle pumps with less force than a healthy ventricle.  Often, the heart muscle will continue to stretch in an effort to compensate for the reduced pumping action.  Thus, the atria and right ventricle may also dilate as this disease progresses.

What causes dilated cardiomyopathy?

Dilated and other cardiomyopathies are classified by what causes them in addition to what changes occur in the heart.  Idiopathic or primary cardiomyopathies have no identifiable cause and compose the majority of cases in children.  Secondary cardiomyopathies have an identifiable cause such as a disease, condition, or substance.  About one half of the cases of dilated cardiomyopathy are called familial dilated cardiomyopathy because they are inherited or caused by an inherited condition.  Barth syndrome is a rare genetically linked disease affecting male children during their first year of life.  Along with skeletal muscle changes, short stature, metabolic abnormalities, and a low number of white blood cells (this condition is known as neutropenia), Barth syndrome can cause dilated cardiomyopathy.  Coronary artery disease and heart attacks cause ischemic cardiomyopathy.  Scars in the heart muscle from heart attacks leave areas of the heart which are unable to contribute to the pumping.  The larger a scar is, the more likely it is to develop cardiomyopathy.  Alcohol abuse can cause alcoholic cardiomyopathy, especially when the abuse is sustained over a period of at least ten years and/or is combined with a poor diet.  The good news about alcoholic cardiomyopathy is that sometimes when a person has damaged their heart with excessive alcohol, he may recover completely when he stops drinking.  Peripartum cardiomyopathy is related to pregnancy and occurs during the last month of pregnancy or the five months following birth.  Cobalt and other toxins can cause dilated cardiomyopathy along with drugs like cocaine, amphetamines, and some medicines used to treat cancer like doxorubicin and daunorubicin.  Metabolic disorders like thyroid disease and diabetes can also cause dilated cardiomyopathy.

What is hypertrophic cardiomyopathy?

Hypertrophic cardiomyopathy describes an abnormal thickening of the heart muscle, usually in the left ventricle, without any obvious cause.  The thickening is characterized by a disorganized arrangement of muscle cells called myocardial disarray.  Because the thickened muscle makes the inside volume of the ventricle smaller, hypertrophic cardiomyopathy decreases the pumping volume of the heart.  As the muscle thickens, it may also become stiff and cause the ventricle not to relax and fill properly in between contractions resulting in increased pressure in vessels of the lungs and the ventricles themselves.  When the wall that divides the left and right sides of the heart thickens and bulges into the left ventricle blocking blood flow, doctors refer to this as hypertrophic obstructive cardiomyopathy (HOCM), asymmetric septal hypertrophy (ASH), or idiopathic hypertrophic subaortic stenosis (IHSS).  The obstruction causes the ventricle to work harder and the body to receive an insufficient amount of blood.  Obstructive hypertrophic cardiomyopathy may also distort a leaflet of the mitral valve in the heart and cause blood to leak through the valve when it cannot close completely.  When the thickened muscle does not obstruct the blood flow out of the ventricle, the hypertrophy is considered nonobstructive.  Apical hypertrophy, in which only the bottom of the heart is thickened, and symmetrical hypertrophy, in which the entire ventricle is thickened, are both forms of nonobstructive hypertrophic cardiomyopathy. 

What causes hypertrophic cardiomyopathy?

When hypertrophic cardiomyopathy is not inherited, the cause may be unknown or the disease may be attributed to aging or sustained high blood pressure.

What is restrictive cardiomyopathy?

Restrictive cardiomyopathy, the least common form of the disease, occurs when the ventricle muscles in the heart become stiff but are not necessarily thickened.  The stiffened muscles make it difficult for the chambers to expand and fill with blood in between contractions.  When the ventricles do not fill properly, the atria become enlarged in an effort to compensate.

What causes restrictive cardiomyopathy?

Restrictive cardiomyopathy can be idiopathic (occurring for no known reason), or may be the result of a specific disease process or condition occurring in another part of the body.  Hemochromatosis is a hereditary disorder that can cause restrictive cardiomyopathy when the body absorbs too much iron from food.  This disorder can damage the heart and other organs because the body stores the excess iron in their tissues.  Cells in the bone marrow of individuals with amyloidosis produce abnormal proteins.  The body may deposit these proteins in heart tissue and cause restrictive cardiomyopathy.  Amyloidosis may begin in the bone marrow due to some unknown cause, be the result of a chronic inflammatory or infectious condition, or be inherited.  Sarcoidosis is an inflammatory condition that begins in the lungs and can spread to other organs including the heart where it can cause restrictive cardiomyopathy.  Certain connective tissue disorders can also cause restrictive cardiomyopathy.

What is arrhythmogenic right ventricular dysplasia?

Arrythmogenic right ventricular dysplasia (ARVD) is a rare, genetic cardiomyopathy in which fat and fibrous scar tissue replaces the muscle tissue in the right ventricle.  An affected person’s heart has patches of abnormal tissue surrounded by areas of healthy muscle tissue.  This disorganized heart structure interferes with the heart’s electrical activity and causes abnormal heart rhythms (arrythmias).  ARVD is an important cause of sudden cardiac death in young patients.

What are the symptoms of cardiomyopathy?

Some cardiomyopathy patients never have symptoms, but most eventually develop symptoms because as the disease progresses, the heart weakens and begins to fail.  The symptoms of heart failure and cardiomyopathy include the following:  arrhythmias; chest or heart pain; decreased alertness; decreasing ability to tolerate physical exertion; dizziness; fainting; heart murmurs; lightheadedness; low daytime urine production; heart palpitations; high nighttime urine production; high blood pressure; shortness of breath; swelling in the abdomen, ankles, feet, or legs; tiredness; and weakness.

What are the dangers of cardiomyopathy?

All types of cardiomyopathy can cause heart failure.  Heart failure does not mean that the heart has stopped beating or working, instead, it describes the condition where the heart is unable to pump enough blood through the body.  Heart failure causes fluid to accumulate in the lungs, feet, ankles, and legs; it also causes tiredness and shortness of breath.  Arrhythmias, abnormal heart rates or rhythms, may occur as cardiomyopathy interferes with the heart’s electrical signaling system.  Arrhythmias may result in the loss of a heart beat (cardiac arrest).  Endocarditis, the inflammation of the heart’s inner lining, may occur in rare cases of cardiomyopathy.  Heart failure, blood clots, arrhythmias, glomerulonephritis, severe heart valve damage, stroke, brain abscess, brain or nervous system changes, and jaundice can all occur with endocarditis.  With dilated cardiomyopathy, the enlarged heart serves as a slow pool in which blood clots can develop.  A clot or piece of a clot may break free and block blood flow somewhere else in the body.

What are the risk factors for cardiomyopathy?

Cardiomyopathy occurs in both sexes, and in all age and ethnic groups.  African Americans, people from 20 to 60 years of age, males, and patients with a positive family history are most likely to get dilated cardiomyopathy.  Patients with a family history of hypertrophic cardiomyopathy are at risk for the disease; in up to 70% of hypertrophic cardiomyopathy cases, the patient has a positive family history.  People afflicted with a disease that is known to cause restrictive cardiomyopathy may be at risk for developing the disease.  Having one or more of the following may mean that you are at risk for cardiomyopathy:  alcoholism; amyloidosis; coronary artery disease; diabetes or other metabolic diseases; hemochromatosis; hypertension; myocarditis; a positive family history of cardiomyopathy, heart failure, or sudden cardiac death; a previous heart attack; or sarcoidosis.

How do doctors find and diagnose cardiomyopathy?

Doctors may hear suspicious heart and lung sounds with a stethoscope or observe swelling of the abdomen, legs, or feet during a physical exam.  If doctors detect a heart murmur or inspect an abnormal electrocardiogram, they may be able to determine that the patient has cardiomyopathy.  These tests may indicate the presence and type of cardiomyopathy: electrocardiogram (EKG or ECG), holter monitor, echocardiogram, exercise stress test, positron emission tomography (PET) scanning, magnetic resonance imaging (MRI), transesophageal echocardiography (TEE), chest x-ray, blood tests, cardiac catheterization, coronary angiography, and myocardial biopsy.


What medicines and behavioral changes help with cardiomyopathy treatment?

There is often no cure for cardiomyopathy, but treatment of the cardiomyopathy or underlying cause may allow patients to live normal lives.  The treatment options for cardiomyopathy include certain drugs, behavioral changes, procedures, and devices.  A doctor may prescribe angiotensin-converting enzyme (ACE) inhibitors which dilate blood vessels to lower blood pressure and make pumping easier for the heart.  Diuretics help patients with heart failure because they expel excess fluids to help the heart pump and lower blood pressure.  Beta-andrenergic blocking drugs (beta-blockers) slow nerve impulses through the heart so that it can relax and use less blood and oxygen.  Calcium channel blockers relax blood vessels, lower blood pressure, and give the heart more blood and oxygen.  Digoxin slows the heart rate and makes the heart pump with more force.  Anticoagulents are used for dilated cardiomyopathy to help prevent forming new blood clots or enlarging existing ones.  Antiarrhythmic drugs can help return a heart that is beating too fast or irregularly to normal rhythm.  Antibiotics can prevent infection of heart tissues.  A doctor may recommend that a patient do the following to help treat or prevent aggravating cardiomyopathy: avoid illegal drugs, eat a low-salt diet, exercise, lose weight, quit smoking, and quit drinking alcohol.

What devices and procedures are available for cardiomyopathy treatment?

In addition to medicines and behavioral changes, doctors use surgery, a special procedure, and surgically implanted devices to treat cardiomyopathy.  Sometimes, with severe congestive heart failure, a heart transplant is the ultimate treatment. 

What are septal myectomy and alcohol septal ablation?

Septal myectomy is an open heart surgery that can be used for patients with severe symptoms of hypertrophic obstructive cardiomyopathy.  The purpose of the surgery is to remove part of the wall dividing the left and right sides of the heart (septum) and repair the mitral valve, if necessary, in order to restore normal blood flow in the heart.  This procedure has low mortality rates (1 to 2%) and high five, ten, and fifteen year survival rates (98, 96, and 83%).  Alcohol septal ablation is a newer, less invasive procedure used to restore normal blood flow through the hearts of patients with hypertrophic obstructive cardiomyopathy.  During the procedure, a doctor inserts a catheter into the groin, guides it to the heart, isolates a vein and injects alcohol.  The goal of the procedure is to kill cells in the thickened tissue so that it will shrink for several weeks after the ablation and blood will flow freely through the left ventricle.  Alcohol septal ablation has only been performed since 1994, and some issues about the advantages and disadvantages of this procedure and septal myectomy remain unresolved. 

What surgically implanted devices help with cardiomyopathy treatment?

Sometimes surgeons will implant permanent devices to help the heart keep a steady, controlled, effective rhythm.  A pacemaker is an electronic device that functionally replaces a patient’s natural pacemaker or overrides a patient’s faulty atrioventricular node in order to maintain a normal heart rate and rhythm.  A biventricular pacemaker makes sure that the left and right ventricles contract at the same time.  A left ventricular assist device (LVAD) is a mechanical device that helps the left ventricle pump oxygenated blood through the body.  A patient awaiting a heart transplant may use an LVAD to temporarily assist a failing heart, a patient who cannot get a heart transplant may use the device as a long term treatment, or a patient who is recovering from open heart surgery may use an LVAD until they have recovered.  Patients with a history of arrhythmias or certain heart diseases like hypertrophic cardiomyopathy use an implantable cardioverter defibrillator to monitor their heart rate and rhythm and deliver a restoring shock if necessary to prevent dangerous arrhythmias.

What is a heart transplant?

Patients with cardiomyopathy are at risk for heart failure.  Sometimes, the only effective treatment option for a person with heart failure is a heart transplant.  During a heart transplant, a surgeon uses an artificial pump to maintain circulation while he removes a patient’s diseased heart and replaces it with a donor’s healthy heart.

Cerebral Aneurysm

What is a cerebral aneurysm?

An aneurysm is similar to a bulge that forms at a weak spot in an inner tube.  A bulge like this may exist for years, and the tire may never blow out, but sometimes a bulge will unexpectedly rupture and the tire will go flat.  A cerebral aneurysm, or brain aneurysm, is an abnormal, permanent bulging or ballooning of the weakened wall in one of the arteries of the brain.  Cerebral aneurysms can occur in any artery of the brain, but they usually occur in the conjunction of arteries that forms the circle of Willis.  The circle of Willis, also called the cerebral arterial circle, is a circular junction of arteries at the base of the brain.  Researchers estimate that three to six percent of adults in the United States have at least one cerebral aneurysm and it is common for a patient to have more than one aneurysm.  Though cerebral aneurysms can rupture without warning, many aneurysms remain small and never rupture or cause any symptoms.

What are the different types of aneurysms?

Doctors classify aneurysms as true or false and by their size and shape.  Blood vessels are muscular tubes with three-layered walls.  A true aneurysm is a bulge contained by all three layers, while a false aneurysm, or pseudoaneurysm, is often more likely to burst because it is not contained by all three layers.  The size of an aneurysm is usually measured in centimeters as the diameter of the widest part.  An aneurysm can be fusiform, enlarged in all directions, or sacular, a bulge at one point on the circumference of the vessel resembling a sack.  Berry aneurysms are the most common type of brain aneurysm.  A berry aneurysm is a type of sacular aneurysm in which the bulge forms a spherical shape attached to the vessel by a narrow, cylindrical neck.

What causes a cerebral aneurysm?

When the walls of an artery weaken, they may be susceptible to forming a bulge.  Certain diseases and conditions, aging, trauma, and infection may weaken arterial walls causing an aneurysm.  Chronic high blood pressure, or hypertension, may cause or aggravate a brain aneurysm.  Smoking and stimulant use can cause hypertension as well as cause or aggravate an aneurysm.  Alcohol consumption, especially binge drinking, can cause aneurysm rupture and may cause aneurysms to form in the brain.  When atherosclerosis hardens and weakens the arteries of the brain by coating them with plaques, a cerebral aneurysm may result.  Chronic high cholesterol, or hyperlipidemia, may cause atherosclerosis or may cause aneurysms itself.  Researchers have discovered a genetic trend for cerebral aneurysms.  Therefore, patients may inherit a susceptibility to forming aneurysms.  Additionally, many genetic disorders are associated with cerebral aneurysm formation.  Polycystic kidney disease is a genetic disease that causes groups of cysts to form on the kidneys until they reduce and replace normal renal tissue; this disease has been associated with cerebral aneurysms.  Ehlers-Danlos syndrome and Marfan syndrome are genetically inherited disorders that can cause the middle layer of an artery’s wall to weaken.  Neurofibromatosis refers to several inherited developmental disorders causing many pedunculated, soft tumors called nerofibromas to form along with café-au-lait spots and problems in the bones, muscles, nervous system, and skin.  Neurofibromatosis has been associated with cerebral aneurysm formation.  A brain disease, infection, or trauma from a head injury can all cause aneurysms to form in the brain.  Cerebral aneurysms are no longer thought to be congenital, or present at birth, instead, all cerebral aneurysms are now considered to be acquired over a lifetime of wear and tear acting upon congenital weaknesses in the arteries or from a previously mentioned disease or condition.

What are the symptoms of a cerebral aneurysm?

Most cerebral aneurysms remain small and never cause any symptoms, and many others remain asymptomatic until they rupture and bleed into the brain or the area around it.  However, some aneurysms that have not ruptured cause symptoms because they exert pressure on or leak into an area of the head or brain.  An aneurysm that has not ruptured may cause the following symptoms depending on its size, location, and growth rate: double vision, loss of vision, headaches, eye pain, neck pain, loss of feeling in the face, dilated pupil in one eye, loss of motion range in one eye, changes in speech, severe headaches, and a droopy eyelid.  Some patients will experience a severe headache or headaches a few days or weeks prior to aneurysm rupture.  The cause of this “sentinel headache” is somewhat unknown, but it is believed to be caused by leakage from the aneurysm that is about to burst.  Most people, however, do not know they have an aneurysm until the sudden onset of symptoms as the aneurysm ruptures.  This rupture is a medical emergency.  A common symptom of brain aneurysm rupture is a sudden, severe headache different from a patient’s customary headache.  The rupture may also cause neck stiffness, nausea, vomiting, irritability, back pain, leg pain, seizures, vision problems, and sensitivity to light.  After the initial symptom(s), the patient may suffer an alteration in mental status as benign as confusion or as extreme as a coma.  In about one fourth of people, a ruptured aneurysm causes seizure. 

What are the dangers of a cerebral aneurysm?

Cerebral aneurysms can rupture suddenly and without warning.  Ruptured aneurysms are fatal for about one half of those afflicted.  One fourth die within one day of the rupture, and another one fourth die within three months.  Of the survivors, half will have a permanent disability.  A ruptured aneurysm can bleed into the space surrounding the brain or the brain itself.  Subarachnoid hemorrhage, bleeding into the space between the brain and the skull, is a more common result of aneurysm rupture than intracerebral hemorrhage, bleeding into the brain itself.  Subarachnoid hemorrhage can cause death, brain damage, or stroke.  An intracerebral hemorrhage from a ruptured blood vessel in the brain can cause swelling or the blood may collect in a mass (a hematoma).  Swelling and hematoma can both rapidly destroy brain tissue.  Cerebral aneurysms can cause increased intracranial pressure that can push the brain downward where the pressure may interfere with brainstem function or cut off blood supply to the brain.  After an aneurysm ruptures, it may seal itself with a clot which may hold the wall of the aneurysm for as much as seven to ten days.  Fibrinolysis will begin to degrade the clot after about seven days, and the aneurysm may start bleeding again, at which point, the symptoms and hemorrhage will start over.  When an aneurysm ruptures or after an aneurysm has ruptured, vasospasm (narrowing) may occur in other blood vessels of the brain where it can cause ischemia (lack of blood supply) or problems with brain function.  Acute hydrocephalus may occur as cerebrospinal fluid collects in the brain case because of blockage by blood or adhesions.

What are the risk factors for cerebral aneurysm?

Cerebral aneurysms can occur in anyone, but they are most common in certain groups.  Patients who are between the ages of 35 and 60, whose lifestyle involves strenuous activities that cause a sudden increase in blood pressure, who have a family history of cerebral aneurysms or a personal history of cerebral aneurysms or hypertension, or who have polycystic kidney disease or coarctation of the aorta are at risk for developing a cerebral aneurysm, as well as females, African-Americans, and nicotine or stimulant drug abusers.

How are cerebral aneurysms found and diagnosed?

Aneurysms that do not or have not yet ruptured often produce no symptoms, so they are sometimes difficult to detect, and tests performed for an unrelated condition may reveal a cerebral aneurysm.  An aneurysm may be suspected after a neurological and physical exam because of the symptoms it causes if it enlarges and compresses or bleeds in the brain or organs of the head.  Some tests that doctors may use to find or confirm a suspected aneurysm as well as plan for treatment include the following:  carotid angiogram, computed tomography angiogram (CTA) scan, magnetic resonance imaging (MRI) or magnetic resonance angiogram (MRA), and cerebral angiogram.  A computed tomography (CT) scan performed in conjunction with a lumbar puncture can identify bleeding in the brain or cerebrospinal fluid (CSF) from a ruptured cerebral aneurysm and an electroencephalogram (EEG) may help determine the cause of seizures. 

What are the treatment options for a cerebral aneurysm?

The “right” treatment option for an aneurysm that has not yet ruptured varies from patient to patient because the risks involved in surgery or non-invasive repair must be weighed against the risk that the aneurysm will rupture.  Some factors used in determining treatment of the aneurysm include the patient’s age, history, and health and the size, growth rate, location, type, and symptoms of the aneurysm.  A small aneurysm (less than 10mm) usually will not rupture, but a large aneurysm that causes symptoms has a higher risk of rupturing, especially if the patient has a history of ruptured aneurysm.  The two procedures that doctors use to treat ruptured and unruptured aneurysms are surgical clipping and coil embolization.  In addition to these two procedures, a surgeon may repair an aneurysm by cutting it out and stitching the blood vessel back to itself or inserting a blood vessel harvested from another part of the body.  All of these procedures involve certain risks including stroke, damage to blood vessels, and aneurysm rupture or reformation.  A doctor may want to control a patient’s blood pressure or encourage a patient with a cerebral aneurysm to avoid strenuous activities, cigarettes, and alcohol abuse.

What is surgical clipping?

Surgical clipping is an invasive surgery during which a surgeon uses general anesthesia and cuts open an area of the skull to place a small metal clip at the base of a berry aneurysm to seclude it from blood circulation and guard it against blood pressure, thus preventing it from growing or rupturing.  For an aneurysm that has already ruptured, the goal of this procedure is to stop the bleeding.  This surgery may not be advisable or possible depending on the patient’s health and the location and size of the aneurysm.

What is coil embolization?

Coil embolization, also called microcoil thrombosis, is a noninvasive, catheter-based procedure during which a doctor inserts a thin tube (catheter) into the arterial system through the groin and guides it up to the aneurysm.  The doctor then uses the tube to place tiny metallic coils into the aneurysm to make the blood clot, relieve the pressure on the aneurysm, and prevent it from growing or rupturing.  This procedure is thought to involve less risk of complications than surgical clipping, but it is a relatively new procedure and may be less effective in preventing later rupture.  Patients undergoing this procedure typically have shorter hospital stays and recovery times than those of patients undergoing surgical clipping.  Balloon embolization is a similar procedure in which the doctor uses tiny balloons to prevent blood flow to the aneurysm

What are the treatment options for a ruptured cerebral aneurysm?

When a cerebral aneurysm ruptures, it is a medical emergency requiring immediate attention.  The doctors or surgeons may decide to operate on the aneurysm using the same procedures that are often used on unruptured aneurysms, but first, they will often want to stabilize the patient in intensive care to maintain vital functions, control bleeding, prevent brain cell death by lack of oxygen, and lower the pressure in the brain.  The doctors will also be concerned with preventing vasospasm in other arteries of the brain.  The risk of vasospasm usually begins three days after the initial aneurysm rupture.  Vasospasm occurs when some of the arteries carrying blood to the brain become constricted and starve the brain cells of oxygen.  Lowering a patient’s blood pressure may help stop the bleeding, while high blood pressure may prevent vasospasm.  A doctor may prescribe anticonvulsant medications because they can assist in preventing seizures.  Sometimes, when an aneurysm has ruptured, fluid that has built up in the brain can be drained with a surgically inserted ventriculoperitoneal shunt.  Researchers are currently working on new drugs and procedures that may help treat ruptured and unruptured aneurysms as well as prevent vasospasms and other complications.

Chronic Venous Insufficiency

What is chronic venous insufficiency?

Chronic venous insufficiency (CVI) describes the condition in which blood pools in a patient’s legs and feet elevating the blood pressure in the veins of the legs because they are unable to pump a sufficient amount of blood back to the heart.  Normal veins are able to pump blood back up to the heart, against gravity, because they have one-way valves which prevent the blood from flowing back down after skeletal muscle movement has squeezed the veins to force blood upward.  Sometimes, when a person sits or stands for a long period of time without flexing the leg muscles, the blood in the leg veins can pool, increasing the pressure in those veins.  Over long periods of time, increased pressure in the veins of the legs can cause them to stretch and may weaken the venous walls or damage the one-way valves of some patients.  Damaged valves may not close properly allowing blood that was pumped toward the heart during leg muscle contraction to flow back down due to gravity while the skeletal muscles are relaxed.  Doctors refer to veins with damaged walls or valves that are unable to pump blood efficiently as incompetent.

What causes chronic venous insufficiency?

Any condition that causes abnormal blood flow or high pressure in the veins of the legs can contribute to chronic venous insufficiency.  Blood clots, trauma to the legs from injury or surgery, obesity, pregnancy, prolonged standing, genetic defects, deep vein thrombosis, and phlebitis can all increase venous pressure and damage valves.  The three types of veins include superficial veins, deep veins, and perforating veins.  Superficial veins are closest to the skin, while deep veins lie deeper in the body, close to an artery, and are closely associated with muscles.  Perforating veins connect the superficial veins to the deep veins which connect to the vena cava, the body’s largest vein.  The vena cava collects blood from most other veins in the body and returns to the heart.  When a superficial vein becomes enlarged, damaged, twisted, or clotted due to a damaged valve, this is called a varicose vein.  Varicose veins affect about 60% of Americans and are often harmless.  When a deep or perforated vein becomes enlarged, clotted, or damaged, it is a more serious condition.  When a blood clot blocks blood flow in a deep or perforated vein, it is called deep venous thrombosis (DVT).  This blood clot could potentially break off and be carried in the blood to the heart and out to the lungs.  Additionally, a blood clot in one of these larger veins can cause the pressure in the vein to increase and the vein to expand as blood collects in the vein.  When the venous pressure increases and the vein expands, the one-way valves inside the vein may not work properly.  Venous expansion can permanently stretch or damage a one-way valve.  Phlebitis describes the inflammation of a vein and can occur in any vein.  Phlebitis occurs most often in women’s legs; it can be caused by a blood clot or several conditions and medications.  Phlebitis can damage venous valves of deep veins and cause CVI.  Obesity, pregnancy, and prolonged sitting or standing can put pressure on leg veins and damage the valves causing incompetent, insufficient veins.

What are the symptoms of chronic venous insufficiency?       

Leg and ankle swelling and ulcers are common symptoms of chronic venous insufficiency as well as tightness in the calves and brown colored skin near the ankles.  The brown colored skin is a result of hemoglobin leaking from the veins and being broken down and deposited in the skin.  A patient’s legs may hurt or feel hard, heavy, itchy, tired, or restless.  Varicose veins can also be a symptom of CVI.

What are the dangers of chronic venous insufficiency?

Chronic venous insufficiency is not always a serious condition.  Sometimes a patient will have CVI with few complications.  However, about one fourth of people with CVI will get ulcers on or around their ankles.  Ulcers are raw areas that are the result of patient’s loss of an area of skin.  These ulcers can be uncomfortable and problematic because they can become infected or spread and do not heal on their own.  CVI can be the result of phlebitis or thrombophlebitis, and it can also cause these two vein inflammation disorders.  While phlebitis is simply the inflammation of a vein, thrombophlebitis is the inflammation of a vein due to a blood clot.  Thrombophlebitis can be dangerous because a blood clot in a vein can break off and travel through the heart to the lungs.

What are the risk factors for chronic venous insufficiency?

Conditions and lifestyles that put additional pressure on the legs can increase a patient’s risk for developing chronic venous insufficiency.  Some of the risk factors include the following: a family history of CVI, obesity, pregnancy, advanced age, a personal history of venous thrombosis, leg trauma, varicose veins or phlebitis, female sex, and an inactive lifestyle.

How is chronic venous insufficiency found and diagnosed?

The symptoms of chronic venous insufficiency are often enough for a doctor to diagnose the condition and begin treatment, but some tests may help find the cause of the problem and determine the best treatment.  In a medical examination, the doctor will likely look for a personal or family medical history of venous insufficiency, deep vein thrombosis, phlebitis, or varicose veins and will check to see if the patient has indications of CVI, which can include ulcers, swelling, or altered blood pressure in the legs.  If the medical examination reveals CVI, the doctor may order a duplex ultrasound or a venogram.  A duplex ultrasound is a painless, completely non-invasive test that uses high-pitched, noiseless sound waves to look at leg veins; the doctor can measure the speed of the blood flow and view the structures of a patient’s leg.  This test can detect blood clots or insufficient blood vessels in the legs.  A venogram is an x-ray procedure that uses a special dye (contrast medium) to clearly view the veins of an area of a patient’s leg.

What are the treatment options available for chronic venous insufficiency?

The treatment for chronic venous insufficiency usually focuses on improving blood circulation in the legs and treating any leg ulcers.  Surgical and nonsurgical treatment options are available for CVI, and the best option for a patient varies; surgery is only recommendable for about one tenth of patients with CVI.  Doctors often recommend that a patient elevate his legs or participate in physical therapy in order to reduce the pressure in the leg veins.  Compression stockings can help improve blood flow through the veins by applying a large amount of pressure at the ankle and gradually decreasing the pressure as the stocking rise to the knee or thigh.  Patients with ulcers may use compression stockings with special bandages to help the ulcers heal.  It is essential that patients strictly follow doctor’s orders when undergoing compression therapy with the stockings.  Doctors can prescribe certain drugs to help patients with CVI including the following: diuretics, which help with swelling; aspirin; anticoagulants, which prevent blood from clotting in the slow moving veins; and pentoxifylline, which can improve blood flow.  Doctors may recommend sclerotherapy for patients with advanced CVI.  Sclerotherapy is an aggressive treatment in which incompetent veins are scarred by a chemical so that they no longer carry blood back to the heart.  The blood that would have traveled through the scarred veins is now diverted and travels to the heart through different veins. 

What surgical treatment options are available for chronic venous insufficiency?

There are many surgical treatments for chronic venous insufficiency, though they are only used in the more serious cases.  Ligation is a surgical procedure in which the surgeon ties off a problematic vein.  If the vein that is tied off in ligation is extensively damaged, the surgeon may remove it in a procedure called venous stripping.  Veins and their valves may be able to be repaired surgically or in a minimally-invasive catheter-based procedure.  A healthy vein may be harvested from another part of the body and transplanted to replace an incompetent vein in the legs.  Doctors may recommend subfascial endoscopic perforator vein surgery (SEPS) or its open surgery equivalent to help heal ulcers and improve circulation by disconnecting incompetent veins around the ankle

Congenital Heart Defects

What are congenital heart defects?

Congenital heart defects (CHD) are problems with the heart’s structure that developed in the womb or early development and are present at birth or shortly thereafter.  Each year, about 1 percent or 30,000 babies are born with the defect, making it the most common birth defect in the U. S.  Congenital heart defects vary widely in structure and severity.  Some defects can be fatal, but thanks largely to new treatments, most affected individuals survive their childhood and live relatively normal lives.  Over 1,000,000 adults are currently living with a congenital heart disease.

How do congenital heart defects develop?

As a fetus’s heart develops from a simple tube to a four-chambered heart with associated veins and arteries, defects may develop.  Part of the heart may develop partially or not at all, a hole in the wall of the heart may form, or the heart arteries and veins may form abnormal connections with the heart.  Congenital heart defects are often thought to be genetic, but they can also be caused by illness or behavioral factors in the mother such as viral infections like German measles, certain prescription drugs and over-the-counter medicines, alcohol, or illegal drugs.  Some conditions like Down syndrome and Turner syndrome are associated with CHDs. 

What are the types of congenital heart defects?

Congenital heart defects vary widely in structure and severity.  CHDs usually involve one of the following: abnormal passages in the heart or between blood vessels, problems with the valves that control the emptying and filling of the heart chambers, mismatched or abnormally located or developed blood vessels near the heart, or structural or developmental malformations in the heart itself. 

What are the congenital heart defects that involve abnormal passages in the heart or between blood vessels?

When abnormal passages exist in the heart, oxygenated and deoxygenated blood can mix in the heart.  This depletes the oxygen in the blood and makes the heart work harder to deliver oxygen to the body.  A normal human heart has four chambers.  The two smaller, upper chambers are called atria; the two lower chambers are called ventricles.  The right atrium receives deoxygenated blood from the body and pumps it to the right ventricle, which, in turn, pumps it out to the lungs.  The left atrium receives oxygenated blood from the lungs and pumps it out to the left ventricle, which, in turn, pumps it out to the body.

Septal defects occur in the wall (septum) separating the right and left sides of the heart either between the two atria (atrial septal defect), the two ventricles (ventricular septal defect), or in the valves that control blood flow from atria to ventricles (atrioventricular septal defect). 

If a connection exists between the artery carrying oxygenated blood from the heart out to the body (the aorta) and the artery carrying deoxygenated blood to the lungs (the pulmonary artery), doctors call the defect a patent ductus arteriosus (PDA).  This blood flow anomaly is normally present before birth but should close shortly thereafter.

How do doctors treat septal defects and patent ductus arteriosus?

Surgeons can sew a patch in the septal wall of patients with atrial and ventricular septal defects to ensure normal blood flow in the heart.  A less invasive alternative to heart surgery is a catheter based procedure in which a doctor places a small, expandable disk in the hole through a small tube inserted through a blood vessel somewhere else in the body and threaded to the heart.  A small hole may not need treatment because it may heal itself or cause only an insignificant decrease in heart efficiency.  Sometimes, drug therapy can help to close the connection between the arteries in patent ductus arteriosus, but surgery may be necessary to fix the defect.

What are the congenital heart defects that involve the heart valves?

Any of the four heart valves can be narrowed, absent, or leaking. 

In aortic valve stenosis, the valve controlling blood flow between the left ventricle and the aorta is excessively narrow making it hard for the heart to pump blood out to the body.  This stenosis involves a malformed valve, which may have too few and/or stiffened leaflets.  A leaflet, or cusp, is a part of a heart valve resembling a flap.  When the aortic valve has two leaflets instead of three, it is called a bicuspid aortic valve.

In pulmonary valve stenosis, the right ventricle of the heart must work harder to pump blood to the lungs because the valve in between that ventricle and the pulmonary artery is narrowed. 

Patients with tricuspid valve atresia have a solid sheet of tissue instead of a tricuspid valve in between the right atrium and ventricle.  The heart of a patient without a tricuspid valve is unable to efficiently pump blood from the right atrium to the right ventricle and out to the lungs, and the right ventricle is often small and can be nonfunctional.  Holes in the septum allow a person with tricuspid valve atresia to survive, but his heart is inefficient. 

Pulmonary valve atresia involves a solid sheet of tissue in place of a valve between the right ventricle and pulmonary artery.  The right ventricle is often malformed, small, and nonfunctional in patients with this defect.  Blood must flow to the lungs through the patent ductus arteriosus connecting the aorta and pulmonary artery.  Mixing of oxygenated and deoxygenated blood makes a patient’s heart inefficient. 

Patients with Ebstein’s anomaly have a displaced and malformed tricuspid valve, which is leaky and located in the right ventricle.  The defect lets some of the blood, which should flow to the lungs to pick up oxygen, flow back down into the right atrium, decreasing the efficiency of the heart.

How do doctors treat congenital heart defects involving the valves?

Doctors can use a variety of techniques to treat problems with the heart’s valves.  They can replace or repair faulty valves with surgery or expand narrowed valves with balloons on catheters.  In patients with tricuspid or pulmonary valve atresia and only one functional ventricle, doctors can use a shunt to help blood flow to the lungs and/or the Fontan procedure to send blood coming back from the body directly to the lungs without first being pumped through the heart.  Prostaglandin E1 is a drug that doctors prescribe to try to keep the ductus arteriosus open so that it can help transfer blood from a functioning artery to the artery that is connected to the blocked valve.  Prostaglandin E1 may be a short term solution until a shunt is in place.

What are the congenital heart defects that involve mismatched blood vessels near the heart?

The location and formation of the blood vessels that connect with the heart are important, because the location determines the type of blood (oxygenated or deoxygenated) that a vessel receives.  If the body receives deoxygenated blood or the lungs receive oxygenated blood, the heart will be strained or unable to meet oxygen demands in the body. 

Transposition of the great arteries is a congenital heart disease in which the aorta and pulmonary artery have been mismatched in their connection to the heart.  Usually, the aorta receives oxygenated blood from the left ventricle and delivers it to the body.  But in a patient with transposition of the great arteries, the aorta receives blood that is poor in oxygen from the right ventricle and carries this blood to the body, and the pulmonary artery receives oxygen-rich blood from the left ventricle to be cycled again through the lungs.  Thus, without some sort of communication between the two sides, the same blood is continually pumped through the body and lungs.

The tetralogy of Fallot is a group of four defects including pulmonary valve stenosis, ventricular septal defect, overriding aorta, and right ventricular hypertrophy.  Patients with this disease have an unusually narrow pulmonary valve and an aorta that is located between the left and right ventricles and receives blood from a hole in the wall that separates the left and right ventricles.  Because the right side of the heart must work harder in patients with this defect, the muscle surrounding the right ventricle is abnormally thickened.  This structural setup for the heart is much more inefficient than a normal setup, and patients with this tetralogy may have inadequate blood flow to the lungs and an insufficient oxygen supply to the body.

Truncus arteriosus is a congenital defect in which the aorta and the pulmonary artery fail to form separately, but are joined permanently as they rise from the heart and separate as they branch into smaller arteries that deliver blood to the lungs and body.  This makes it impossible for the heart to segregate the oxygenated and deoxygenated blood that comes from the two sides of the heart.  Truncus arteriosus makes a patient’s heart inefficient because it delivers the same blood to the lungs and body. 

Coarctation of the aorta is a condition in which a patient’s aorta is constricted.  This constriction can obstruct blood flow as the heart pumps blood to the body.  High blood pressure is common in patients with this defect because the coarctation increases pressure before the constriction and causes inadequate blood flow to the body.  Patients with this defect are at risk for congestive heart failure and chronic high blood pressure. 

Some people are born with one or more of the veins that return blood to the heart from the lung returning blood to the wrong atrium.  Doctors call this condition anomalous pulmonary venous return.  All four of the pulmonary veins normally return their oxygenated blood to the left atrium, but patients born with this condition have at least one pulmonary vein attached to the right atrium.  This defect causes a mix of oxygenated and deoxygenated blood and decreases the heart’s efficiency.  Some people are born with all four pulmonary veins returning to the right atrium; they have total anomalous pulmonary venous return, a serious defect in which the only source of oxygenated blood for the body is through an atrial septal defect.  Most people with total anomalous pulmonary venous return can survive only if treated within their first year.

How do doctors treat congenital heart defects that involve mismatched blood vessels near the heart?

Transposition of the great arteries requires immediate intervention to get adequate oxygen to the body for vital functions.  If the oxygenated and deoxygenated blood is kept completely separate, a person cannot survive long.  If, however, a septal defect or patent ductus exists in the heart or arteries, the two blood supplies will be able to communicate, and a patient may be able to retain vital functions.  Balloon atrial septostomy, or the Rashkind procedure, is a catheter-based procedure that doctors can use to widen a hole in the atrial or ventricular walls in order to allow better communication between the two bloods.  A surgeon may perform one of two procedures to correct transposition of the great arteries, venous switch or arterial switch.  Both of these procedures try to create a situation conducive to normal blood flow by switching the connections. 

Patients with the tetralogy of Fallot may need a procedure to allow blood to mix between the aorta and the pulmonary artery in order to survive infancy.  In early childhood, most patients with the tetralogy of Fallot will need open heart surgery to close the ventricular septal defect and widen the stenosis in the pulmonary valve. 

Most people born with truncus arteriosus will need a surgical procedure in which a surgeon separates the two arteries and makes connections between the pulmonary artery and the right ventricle.

Patients with coarctation of the aorta may or may not need serious treatment depending on the severity of the constriction in the aorta.  Many surgical options are available for a coarctation, and they all focus on removing, avoiding, or widening the obstruction in the aorta.  A catheter-based procedure called balloon dilation may be used with or without stent placement to open up the constriction in some patients.

Surgical repair for total anomalous pulmonary venous return is usually performed within the first six months of a person’s life.  The pulmonary veins are redirected to the left atrium and the atrial septal defect is closed.

What are the heart defects that involve structural or developmental malformations in the heart itself?

Single ventricle defects are conditions in which one of the ventricles is absent or undeveloped.  Hypoplastic left heart syndrome is a single ventricle defect affecting the left side of the heart and may be the hardest to manage of all the common congenital heart defects.  Mitral atresia, aortic atresia, an atrial septal defect, and a small, undeveloped left ventricle combine to make the syndrome.  This results in a situation where the right side of the heart must do all of the work; it must pump blood to and from the lungs and body.  The body’s only source of oxygenated blood, then, is the blood that passes through the patent ductus arteriosus, which, without treatment, will usually close within the first few days after birth.

How do doctors treat hypoplastic left heart syndrome?

Without treatment, hypoplastic left heart syndrome is almost always immediately fatal within the first few days of birth.  Treating the defect is an involved process.  Prostaglandin E1 will help keep the patent ductus open as doctors try to balance blood flow to the lungs and body with other drugs to allow the baby to survive.  Although heart transplantation is an option for children with this disorder, the most popular option is called “staged reconstruction.”  Staged reconstruction shows promising results and involves a series of three surgeries that are designed to make the patient’s heart as efficient as possible.  These surgeries, particularly the first, are dangerous and difficult, but the outlook for patients with this defect is improving.

What are the risk factors for congenital heart defects?

A person with a congenital defect is more likely to have a child with a defect than the average person.  Some factors increase a mother’s chance of having a child with a defect including viral infections, diabetes, certain legal and illegal drugs, some chemicals or x-rays, and alcohol consumption during pregnancy.

How do doctors identify congenital heart defects?

Some heart defects can be seen on prenatal tests and the doctor can order a fetal echocardiogram if he suspects a defect in the child.  Many defects, however, are identified shortly after birth by their signs and symptoms.  Some signs and symptoms of defects include a heart murmur; a bluish tint to skin, lips, and fingernails (cyanosis); shortness of breath; fast breathing; fatigue; and poor weight gain.  If a doctor suspects a heart defect in a newborn, he may order an echocardiogram, an EKG, a chest x-ray, or a pulse oximetry.  A pulse oximetry is a noninvasive test doctors use to see if oxygenated and deoxygenated blood is mixing in the heart and to observe lung function.  The test involves placing a sensor similar to a bandage on the child’s finger or toe.  A cardiac catheterization may be necessary to definitively see the arteries around the heart and observe heart function.

Congestive Heart Failure (CHF)

Congestive heart failure refers to the condition of the heart where it no longer is able to maintain the normal blood circulation throughout the body. In congestive heart failure, the heart becomes progressively inefficient as the volume of blood in the veins increases, causing the veins to become dilated. The lungs, liver, and intestines become congested with blood.

Causes of congestive heart failure include weakness of the heart muscle, hypertension, heart attack, chronic lung disease such as emphysema, disease of the heart valves, hyperthyroidism, certain viral illnesses, arrhythmias, severe anemia, or pulmonary embolism. Symptoms include breathlessness (as occurs when fluid accumulates in the lungs), swollen ankles (a type of edema), and weakness.

Treatment of congestive heart failure typically focuses upon reducing the volume of fluids in the circulatory system. Diuretics may be prescribed. A salt-free diet is often ordered. Additionally, digitalis may be prescribed to strengthen the heartbeat. Drugs that dilate the arteries may be taken to ease the heart's ability to pump blood. More severe or acute cases of congestive heart failure may require bed rest or hospitalization. Oxygen may be required in some cases.

Deep Vein Thrombosis and Thrombophlebitis

What is thrombophlebitis?

Thrombophlebitis is an inflammation or swelling of a vein associated with a blood clot inside of it.  It can occur in the deep veins, which are the deep, large veins associated with the major arteries, or the superficial veins, which are the visible veins just under the skin.  Thrombophlebitis usually affects the veins in a patient’s lower legs or thighs but could affect veins in the arms or anywhere else in the body. 

What is deep vein thrombosis?

Deep vein thrombosis (DVT) is a type of thrombophlebitis in which a clot has lodged in one of the large, deep veins.  These clots usually form in the legs where they block circulation and can be dangerous if they break off and travel to other parts of the body.  Pulmonary embolism (PE) is a dangerous possibility involving a blood clot that has formed in a deep vein and traveled through the heart and out to the lungs where it lodges in the arteries.

What is superficial thrombophlebitis?

Superficial thrombophlebitis is a condition in which a superficial vein has become inflamed due to a blood clot.  These blood clots are much less dangerous than those in the deep veins because they cannot break off and travel through the heart.  Superficial thrombophlebitis can occur after an intravenous (IV) line or trauma to the vein.  Redness, inflammation, warmth, tenderness, pain, or hardening of the skin near a superficial vein; swelling of the extremity; and fever are among the symptoms of superficial thrombophlebitis.  Usually a temporary condition, superficial thrombophlebitis can recede within one or two weeks.  The treatment options include pain medications, anti-inflammatory drugs, and anticoagulants.  Superficial thrombosis may also be helped by elevating the legs and warm compresses.  Severe cases may require sclerotherapy, surgical stripping, or removal.

What are the causes of deep vein thrombosis?

Long periods of inactivity can decrease blood flow through the leg veins allowing blood to move slowly and pool in a person’s legs and tend to clot.  Paralysis, estrogen therapy, some cancers, and an inherited tendency to form blood clots can cause deep vein thrombosis as well. 

What are the symptoms of deep vein thrombosis?

The symptoms of deep vein thrombosis, which only about one half of people with the condition experience, may include a swollen area, pain, tenderness, discoloration, or redness in an area of the leg.  A clot in the legs may have no symptoms until it breaks off and lodges in the lungs as a pulmonary embolism.  The symptoms of a pulmonary embolism, an immediately dangerous, sometimes fatal condition, may include chest pain with a deep breath and shortness of breath.

What are the dangers of deep vein thrombosis?

Blood clots in the deep veins of the thigh are the most likely to break off and lodge in another part of the body, but any clot in the large veins has the potential to break free.  Pulmonary embolism is the most frequent complication of deep vein thrombosis, but many other complications are possible.  Pulmonary emboli are dangerous because they can block an artery in the lungs, cutting off blood flow to that area.  If a patient has a hole in the wall separating the two sides of the heart, a blood clot may travel from the legs to the right side of the heart, through the hole (defect) to the left side of the heart, and out of the heart to almost any organ in the body.  If it lodges in the coronary arteries, it can cause a heart attack, and if it lodges in the brain, it can cause a stroke.  Doctors refer to a series of uncomfortable complications that may follow DVT as postphlebitic or post-thrombotic syndrome. This syndrome is the result of veins damaged by a long-term obstruction or blood backflow and occurs in greater than one half of patients diagnosed with DVT about a year after their diagnosis.  Postphlebitic syndrome includes leg pain, swelling, fluid retention, discoloration, and ulceration.  Long-term DVT can also damage the valves of leg veins and cause chronic venous insufficiency, a condition in which the leg veins are unable to properly return blood to the heart.

What are the risk factors for deep vein thrombosis?

Some conditions, diseases, drugs, and behavioral factors can increase a person’s risk for deep vein thrombosis.  These include inherited blood clotting disorders; damaged deep veins; decreased blood flow in the legs from prolonged sitting, standing, or immobilization; cancer and cancer treatment; varicose veins; pregnancy; age greater than sixty; obesity; birth control pills or hormone therapy; and having a central venous catheter.

How do doctors find and diagnose deep vein thrombosis?

Doctors can often identify and diagnose deep vein thrombi by the symptoms they produce in a patient and can then use one or a few tests to confirm the diagnosis and better understand the scope of the condition in a particular patient.  A duplex ultrasound, a test that involves bouncing sound waves off blood flowing in a patient’s leg veins, can allow a doctor to make a clear diagnosis.  A venogram can give a doctor similar clarity using x-rays and dye to reveal clots in a patient’s legs.  Some blood tests can show if a patient has a tendency to form blood clots by testing levels of substances linked to clotting conditions.

How do doctors treat deep vein thrombosis?

Treatment for deep vein thrombosis is often necessary to reduce the risk of complications.  Blood thinning medications like warfarin pills and heparin injections can help prevent current blood clots from growing and new blood clots from forming.  A patient may need to take thrombin inhibitors in place of heparin.  Thrombolytics can be used when a patient is in immediate danger to quickly dissolve a blood clot.  Some patients may need a vena cava filter to prevent blood clots from moving to the lungs.  These filters can often prevent pulmonary emboli but cannot stop blood clots from forming in the legs and can actually cause clots to form around the filter.  Graduated compression stockings may be necessary for some patients to reduce chronic leg swelling with DVT and keep blood from pooling and clotting.  Most thrombi disappear after treatment, but the condition may recur.

Fibrillation

Fibrillation is a rapid, irregular twitching of the heart muscle tissue. In order to function as a pump, the muscle tissue if the heart must contract and relax in a smooth, coordinated manner. When the nervous tissue controlling the rate of contraction and relaxation of the heart muscle tissue is compromised through trauma, age or disease, the coordination of the muscle tissue is lost.

This condition may affect either of the two sets of chambers of the heart.

  • Atrial fibrillation is the extremely rapid twitching of the upper chambers (atria) of the heart. When the atria cease to contract rhythmically, the ventricles do not receive a regular stimulus to trigger their contraction. This results in an inefficient pumping of the blood and in irregular pulse. Causes of this condition include many types of heart disease, such as coronary artery disease, hyperactivity of the thyroid gland, or alcohol abuse.
  • Ventricular fibrillation is similar to atrial fibrillation; however, it affects the lower chambers of the heart (the ventricles). This condition may have fatal results within minutes because the rapid, fluttering of the ventricles pumps little or no blood through the circulatory system of the body. This condition may be caused by coronary thrombosis, drugs such as digitalis, excessive diuretic use, or electric shock.

Atrial fibrillation is typically controlled by digitalis or other medications to bring the rhythm of the heart under control. When fibrillation is associated with thyroid disease, appropriate treatment of the thyroid is required. Ventricular fibrillation is an emergency condition that is treated as a cardiac arrest. Subjecting the heart to a controlled electrical shock with a defibrillator attempts to restore the regular heartbeat.

Atrial Septal Defect (ASD)

Definition:

Atrial septal defect (ASD) is an abnormality of the upper chambers of the heart (atria) where the wall between the right and left atria does not close completely, leaving an opening between these two chambers of the heart. This defect is present at birth (congenital).

Causes, incidence, and risk factors

An atrial septal defect (ASD) is a congenital heart defect. In fetal circulation there is normally an opening between the two atria (the upper chambers of the heart) to allow blood to bypass the lungs. This opening usually closes about the time the baby is born. If the ASD is persistent (remains open), blood continues to flow from the left to the right atria. The opening between the chambers is called a shunt.

ASD is present in 4 out of 100,000 people. When the person has no other congenital defect, symptoms may be absent, particularly in children. Symptoms usually have manifested by age 30. Individuals with ASD are at an increased risk for developing a number of complications including the following:

  • infective endocarditis (a bacterial infection of the heart)
  • heart failure
  • atrial fibrillation, which is an abnormally fast heart rhythm.

Symptoms

People with small-to moderate-sized defects may show no symptoms at all, or not until middle age or later. The typical symptoms of an ASD are the following:

  • frequent respiratory infections in children
  • difficulty breathing (dyspnea )
  • shortness of breathe with activity
  • sensation of feeling the heart beat (palpitations )

Signs and tests

There may be a palpable pulsation of the pulmonary artery in the chest. Examination with a stethoscope (auscultation) of the heart usually reveals abnormal heart sounds. There may be a murmur caused by the increased blood flow across the pulmonic valve, and signs of heart failure. If the shunt is large, increased blood flow across the tricuspid valve (between the right atrium and ventricle) may be responsible for an additional murmur.

Tests that may be performed in the diagnosis of ASD include the following:

  • A chest X-ray
  • An echocardiography (ultrasound of the heart) or a contrast echocardiography
  • A color Doppler/Echo study of the heart
  • Transesophageal echocardiography (TEE)
  • A cardiac catheterization
  • A coronary angiography (for patients over 35 years old)
  • An MRI of the chest (sometimes)

An ECG may show atrial fibrillation, right atrial enlargement, or a pattern of delayed electrical conduction in the heart.

Treatment

ASD may not require treatment if there are few or no symptoms, or if the defect is small. Surgical closure of the defect is recommended if the atrial septal defect is large or if symptoms occur.

Recently, a new procedure, percutaneous ASD closure, has been developed to close the defect without open heart surgery. This involves the introduction of a closure device into the heart through wires or catheters.

A tiny incision is made in the groin to introduce the catheters. They are then advanced into the heart where the closure device is deployed across the ASD and the defect is closed.

This procedure is relatively new and may not be applicable to all patients. The size of the opening and its location, especially proximity to the valves of the heart, are prime determining factors for this procedure. Prophylactic (preventive) antibiotics should be given prior to dental procedures to reduce the risk of developing infective endocarditis.

Deployment of the Amplatzer Atrial Septal Defect Occluder


Image used with permission of the AGA Medical Corporation.

  Figure 1 – With fluoroscopic and echocardiographic guidance, the cardiologist inserts the device through the hole in the septum. The device is then partially deployed. As it is deployed from the catheter, it expands like a tiny umbrella to a size that will cover the opening in the septum.
     

Image used with permission of the AGA Medical Corporation.
  Figure 2 – The cardiologist gently pulls the device against the opening. The device is then further deployed from the catheter, creating a second cover for the opening on the other side of the septum.
     

Image used with permission of the AGA Medical Corporation.
  Figure 3 – Once the cardiologist confirms a snug fit of the occluder against the septal wall, the device is released from the catheter. The deployed occluder seals closed the atrial septal defect.

Expectations (prognosis)

With a small-to-moderate atrial septal defect, a person may live a normal life span without symptoms. Larger defects may cause disability by middle age because of increased blood flow and shunting of blood back into the pulmonary circulation.

Complications:

  • Pulmonary hypertension
  • Arrhythmias, particularly atrial fibrillation
  • Heart failure
  • Infective endocarditis

Prevention

There is no known way to prevent the defect, but some of the complications can be prevented with early detection.

Heart Murmur

A heart murmur describes an abnormal sound produced by blood flowing through the valves and chambers of the heart. Consultation of a cardiologist is recommended when a heart murmur is present. Many cases simply require periodic monitoring; however, other cases may be more severe, such as murmurs caused by defective valves inside the heart, and require surgical intervention.

Any person with a heart murmur should advise their doctor or dentist before undergoing surgery or dental work. Antibiotics may be prescribed before the procedure to prevent bacterial endocarditis.

Heart Valve Diseases

What are heart valve diseases?

The four valves in the heart function as one-way gates that open and close to allow the chambers to fill and empty at the opportune moments according to the differences in pressure on either side of the valves.  When the pressure is higher behind the valve, the valve opens to let blood flow forward until the pressure past the valve becomes higher, at which point the valve closes to prevent backflow.  The mitral valve opens to allow blood to flow from the left atrium to the left ventricle and closes to allow the contracting left ventricle to pump blood through the opened aortic valve into the aorta.  The tricuspid valve opens to allow blood to flow from the right atrium to the right ventricle and closes to allow the contracting right ventricle to pump blood through the opened pulmonary valve into the pulmonary arteries.  Two possible problems can occur with any of the four heart valves.  Stenosis is the narrowing of a valve that strains the heart because it must pump blood with greater force through a smaller hole that offers larger resistance.  Stenosis can occur when the leaflets, small flaps composing the valves that open and close in response to pressure changes on either side, become stiff, thick, or fused to one another.  Regurgitation or insufficiency occurs when one of the heart valves leaks because it does not close completely.

What causes heart valve diseases?

Two general types of heart valve problems exist based on whether they are present at birth or develop over the course of a patient’s life.  Congenital heart valve problems are present in 1 out of every 1000 live births and may be caused by an altered environment in the womb as well as by genetic factors.  If the mother has diabetes, phenylketonuria, a rubella infection, lupus, drinks, or takes lithium or some seizure medications, her infant may be more likely to be born with a heart valve problem.  Usually, the mother of a child born with a valve problem does not have one of these conditions, and did not drink, or take one of these medications; the cause of the disease is usually genetic or unknown.  The most common congenital valve problem, called a bicuspid aortic valve, occurs when the aortic valve has two instead of three leaflets.

When a patient has an acquired heart valve disease, he was born with structurally normal valves, but one or more of them became abnormal during his lifetime.  Sometimes, doctors can identify the cause of this disease as a condition such as rheumatic fever, infective endocarditis, myxomatous degeneration, calcific degeneration, syphilis, high blood pressure, arteriosclerosis, a heart attack, coronary artery disease, or some connective tissue disorders like Marfan’s syndrome.  Before antibiotics were widely used in the U.S. to treat strep throat, rheumatic fever was the most significant cause of heart valve problems.  Rheumatic fever occurs as a result of an untreated streptococcal bacterial infection and causes the body’s immune system to damage its own tissues including the heart valves.  Usually occurring in children, rheumatic fever causes rheumatic heart disease, a condition that continues throughout a patient’s life and most often lies dormant for about 20 years before causing symptoms.  Infective endocarditis is an infection of the heart’s inner lining.  In patients with this condition, microorganisms, most often streptococci or staphylococci bacteria, grow on the heart’s lining, forming bumps or holes that can distort the shape of valves and disrupt their function.  Myxomatous degeneration is most common in elderly patients and usually affects the mitral valve, which separates the left atrium and ventricle, the side of the heart that is responsible for pumping blood from the lungs out to the body.  Doctors do not know what causes myxomatous degeneration, but it is characterized by a loss of elasticity in the valve tissue that causes the valve to have problems opening and closing.  Calcific degeneration occurs most often in the elderly when their bodies deposit calcium on one of their heart valves, usually the aortic valve, causing it to harden and resulting in aortic stenosis.  A heart attack occurs when the heart muscle does not get enough blood to meet its needs.  This lack of blood scars heart muscle and can damage the papillary muscles that support the mitral and tricuspid valves leading to problems with their functioning.

What are the symptoms, dangers, and complications of heart valve diseases?

Heart valve diseases often exhibit no symptoms, cause no problems, and are discovered only when a doctor hears a murmur, an abnormal heart sound occurring when blood leaks back through a valve that failed to close properly or is turbulently squeezed through a valve that will not open completely.  Heart murmurs often do not indicate a serious problem.  In infants with severe valve disease, cyanosis (bluing of lips, fingernails, and skin) can occur along with the symptoms of heart failure like swelling and shortness of breath.  For adults, palpitations, breathlessness, chest pain, fatigue, fainting, ankle swelling, weakness, dizziness, and rapid weight gain can indicate a problem in the heart valves.  The symptoms of infective endocarditis, an inflammatory condition that can cause heart valve diseases, include fatigue, slight fever, weakness, and joint pain.  The most important danger of a valve disease is congestive heart failure.  Congestive heart failure occurs when the heart becomes weakened to the point that it cannot pump with enough strength to supply the body with blood.  Blood becomes congested in the veins and fluid may collect in the ankles to cause swelling and around the lungs to cause shortness of breath.  Malfunctioning heart valves can cause clots to form in the heart.  These clots are dangerous because they may travel to small arteries supplying the organs and block the bloodflow to those organs.  Clots traveling to the lungs (pulmonary embolism) and brain (stroke) are especially dangerous.

What are the types of heart valve diseases, and how are they different?

The aortic valve regulates blood as it passes from the left ventricle to the aorta, the artery that carries oxygenated blood to the body.  Some children are born with an aortic valve that has 2 leaflets instead of 3.  Though this congenitally bicuspid aortic valve is severely narrowed in 10% of those affected, in 90% of those with the condition, the valve is still functional to the extent that they have no symptoms in the first year of life.  Stenosis in the aortic valve increases the resistance against which the left ventricle must pump.  This increased afterload causes the left ventricle to become larger and thicker, a condition that can make the heart less able to accommodate an increase in the body’s demand for blood.  Patients with an enlarged left ventricle may not be able to sustain strenuous activities.  Additionally, a narrowed aortic valve may cause the coronary arteries, the arteries that supply the heart with oxygenated blood and exit the aorta near its beginning at the aortic valve, to have limited bloodflow.  Limited bloodflow in the coronary arteries can cause angina or a heart attack.  The aortic valve may regurgitate blood because it is unable to close sufficiently and this condition can also cause the left ventricle to enlarge.  An increase in backflow to the ventricle may cause it to increase its capacity while thinning its walls, a process called dilating.  A dilated ventricle, like an enlarged ventricle, may not be able to accommodate an increase in the body’s demand for blood. 

The mitral valve regulates blood as it passes from the left atrium to the left ventricle.  Mitral valve prolapse is the most common valve disease and involves a mitral valve in which one or both of the leaflets bulge backwards into the left atrium.   Mitral valve prolapse is thought to affect 5-10% of the U.S. population, but is usually mild, causes no symptoms, and needs no treatment.  Mitral valve prolapse, however, can be serious in some patients and result in mitral regurgitation as well as an increased risk for infective endocarditis.  Congenital mitral valve stenosis is rare, but when it occurs, it can be serious and life-threatening.  The most important cause of acquired mitral valve stenosis is rheumatic fever.  When the resistance between the left atrium and ventricle increases due to a narrowed mitral valve, pressure builds up in the pulmonary veins, the veins that carry blood from the lungs back to the heart.  High pressure in the blood vessels of the lungs causes them to become congested and results in shortness of breath.  When mitral valve stenosis is severe, the result is congestive heart failure.  Mitral regurgitation can also be serious if the valve is significantly leaky.

The tricuspid valve regulates blood as it passes from the right atrium to the right ventricle.  Problems with the tricuspid valve rarely occur separate from problems with the other valves.  Tricuspid stenosis and regurgitation may cause leg swelling and fatigue.

The pulmonary valve regulates blood as it passes from the right ventricle to the pulmonary veins.  Problems with this valve are rare and usually congenital.  If a child has severe pulmonary stenosis, he will often develop heart failure and subsequent cyanosis as his lips, fingernails, and skin turns blue because of an inadequate blood supply.  High blood pressure in the lung’s blood vessels (pulmonary hypertension) due to chronic obstructive pulmonary disease can damage the pulmonary valve causing pulmonary valve stenosis or regurgitation.

How do doctors diagnose heart valve diseases?

Doctors can detect many heart valve conditions by listening to a patient’s heart with a stethoscope because of the abnormal sounds (murmurs) usually accompanying them.  An electrocardiogram (EKG or ECG), chest X-ray, blood tests, echocardiogram, Doppler echocardiogram, or cardiac catheterization may help doctors identify and accurately diagnose a valve condition.  Doctors usually begin with less invasive tests like ECGs, chest X-rays, and echocardiograms before performing a cardiac catheterization for a more definitive diagnosis.

What are the treatment options for heart valve diseases?

Many heart valve conditions are not serious and require no treatment.  While some drugs can help alleviate the symptoms of valve conditions, prevent further complications, and reduce the strain on the heart, a surgery or a catheter-based procedure may be able to treat the conditions entirely or substantially alleviate complications.  Digitalis medications can help a failing heart by increasing its pumping efficiency and maintaining the heart in proper rhythm.  Antiarrhythmics like quinidine and procainamide can also help maintain a patient’s heart in proper rhythm.  Vasodilator medications like ACE inhibitors, nitroglycerin, and Minipress can be helpful because they make blood vessels expand to decrease the pressure against which the heart must pump.  Diuretics like Lasix and Hydrodiuril can help by reducing total blood volume, when it has increased as a result of congestive heart failure.  Anticoagulants like Coumadin can prevent clots from forming in the heart.  These medications may be able to sufficiently manage a valve problem such that a major intervention will be unnecessary or allow a patient to delay an operation until the condition becomes more threatening. 

Final treatment of a severe problem involves repair or replacement of the diseased valve.  Percutaneous balloon valvoplasty is a catheter-based procedure doctors use to repair a narrowed heart valve.  A physician inserts a tiny catheter with a deflated balloon on it into a patient’s blood vessel and pushes it through the vessel, into the patient’s heart to the narrowed valve.  At the narrowed point, the doctor inflates the balloon to widen the valve opening.  Doctors may decide to use a more invasive open surgery to repair a diseased valve.  An open surgery valvotomy is a more invasive method doctors can use to fix a stenotic valve.  In this procedure the doctor uses open heart surgery to separate valve leaflets that are fused together.  A surgeon may also open up the valve by surgically stretching it.  If a valve is leaking, a surgeon may try to suture tears or tighten the leaflets.  Sometimes, a surgeon can fix a leaking valve by pulling its base closer together in order to facilitate tighter closing and eliminate any gaps. 

Some severely stenotic or regurgitating valves must be replaced instead of repaired.  Valve replacement surgery involves opening the heart and removing a damaged valve while replacing it with a biological or mechanical valve.  Biological valves come from pigs, cows, or deceased human donors.  There are two main designs for mechanical valves, both of which are more durable and last longer than their biological counterparts.  A caged ball design involves a small cage containing a ball that blows up off of a hole when blood is being force through, but settles back on top of the hole to prevent backflow when greater pressure exists on the other side of the valve.  Another design is called a tilting disk valve and involves a round disk that is allowed to tilt inside of a ring.  When blood is being forced through the valve, the ring spins 90 degrees from the horizontal to the vertical position so that it does not cover the hole.  When, however, greater pressure exists past the valve, the ring spins back 90 degrees to be horizontal and fit over a hole to seal it and prevent backflow.  Both mechanical and biological valves can promote blood clots, with mechanical valves tending to do so to a greater extent.  For this reason, patients who undergo valve replacement surgeries must take anticoagulants (blood thinners).

Hypercholesterolemia

Hypercholesterolemia is a condition by which the serum cholesterol levels in the body are above normal values. Cholesterol is a fatty substance found in all animal tissues and makes up an important part of cell membranes. The liver uses cholesterol to manufacture bile. Cholesterol is used to produce certain hormones, including sex hormones. The body manufactures its own cholesterol, but it also absorbs it through fatty foods. When cholesterol levels become too high, the excess cholesterol is deposited as fatty plaque on the interior walls of the arteries, which can lead to blockages.

Total serum cholesterol levels are monitored as well as the amount of specific types of cholesterol transport molecules. High-density lipoproteins (HDL) are sometimes called "good cholesterol" because it may actually provide protection from heart attacks. Conversely, low-density lipoproteins (LDL) have been linked to certain diseases, particularly atherosclerosis.

Risk Level Serum Cholesterol LDL Level
Low risk <200 <130
Borderline 200-239 130-159
High Risk >240 >160

Risk Level HDL Level
Male Female
Decreased risk <72 <96
Average Risk 52 68
Increased Risk >32 >39

Lowering total serum cholesterol levels and reducing LDL are desired goals. Most frequently, modifying one's diet so that no more than 30 percent of calories are derived from fat is a first step. Aerobic exercise has been shown to reduce serum cholesterol levels and boost HDL ("good cholesterol") levels. Avoiding smoking and alcohol abuse tends to help lower cholesterol levels as well. When these steps are insufficient, medications may be prescribed.

Hypertension

Hypertension is a condition where a person's blood pressure is persistently above normal. Although blood pressure varies from person to person, and from time to time for individuals, readings for a person at rest of 140/90 or above are considered abnormal.

The incidence of hypertension is higher for blacks than whites and increases with age in all groups. High blood pressure is an important risk factor for several diseases. As blood pressure increases, so does the risk of stroke, heart attack, kidney failure, retinal damage, and brain tissue dysfunction.

Because hypertension typically offers no overt symptoms, it is often called "The Silent Killer." It is typically diagnosed during a routine medical examination. Since taking one's blood pressure reading is relatively simple, the condition can be easily monitored. Episodes of extremely high blood pressure may cause severe headache, heart failure, and visual disturbances. Extended periods of hypertension may weaken the walls of the blood vessels, making them prone to bulging (aneurysm) or bursting (internal hemorrhage or stroke).

The cause of hypertension is unknown for most patients; however, links have been made to kidney disease, diseases of the arteries, and tumors, especially of the adrenal glands. Other factors associated with hypertension include genetic predisposition, obesity, smoking, high salt intake, high stress levels, and excessive alcohol use.

Treatment often involves addressing the factors associated with hypertension. Medication therapy usually includes the use of diuretics to rid the body of excess salt and fluid retention.

Hypotension

Hypotension is a condition characterized by blood pressure being reduced or below normal levels. The symptoms of hypotension, or low blood pressure, include dizziness, fainting, palor, a feeling of coldness, and shock. The presence of hypotension may itself cause depression, lethargy, and fatigue. Hypotension may be caused by some medications; however, causes that are more serious include peripheral neuritis, diabetes mellitus, tabes dorsalis, and Parkinson's disease.

Typically, hypotension corrects itself spontaneously. When the condition does not resolve on its own, improvement may be seen through the addition of salt to the diet to increase blood volume and the use of corticosteroids. When the cause is peripheral neuritis, treatment of this condition is required to correct the low blood pressure.

Mitral Valve Prolapse

What is mitral valve prolapse?

The mitral valve is the valve that separates the two chambers on the left side of the heart, the left atrium and ventricle, from each other.  The left side of the heart is stronger than the right side because it pumps blood out from the lungs to the rest of the body, while the right side pumps blood only to the lungs.  Mitral valve prolapse, also called Barlow’s syndrome, floppy valve syndrome, or click-murmur syndrome, occurs when one or both of the two leaflets (flaps composing the mitral valve) bulge backwards (prolapse) into the left atrium when the left ventricle contracts.  In the majority of cases, the mitral valve is still perfectly functional, but sometimes the valve can allow blood to leak backwards, a condition called mitral valve regurgitation. 

What causes mitral valve prolapse?

Mitral valve prolapse can occur in a structurally normal valve, in which case the cause is often difficult to determine, though the condition has strong hereditary tendencies.  When the prolapsing valve has an abnormal structure, the reason the valve bulges backwards is usually that the mitral valve closes unevenly due to leaflets that are too large or chordae tendinea that are too long.  Chordae tendinea are chords that attach the mitral valve to muscles on the wall of the heart, and, combined with the muscles to which they attach (papillary muscles), the two leaflets, and the hole in which the valve sits (mitral annulus) compose what doctors call the mitral apparatus.  A process called myxomatous degeneration can cause this apparatus to become redundant (too large or long) because of the abnormal formation of a protein called collagen.  Sometimes, mitral valve prolapse can be attributed to a genetic disorder like Marfan syndrome or associated with an imbalance of the autonomic nervous system, the portion of the nervous system controlling involuntary functions. 

What are the symptoms, dangers, and complications of mitral valve prolapse?

When mitral valve prolapse is not associated with an abnormal valve structure, the condition is usually benign and has few symptoms.  Even when the valve’s structure is abnormal, the condition is still likely not to have any symptoms or complications, but blood clots can be more likely to form in the heart and mitral regurgitation can lead to congestive heart failure.  When patients have symptoms, they can often be difficult to explain or psychological problems like anxiety, panic attacks, and depression.  These symptoms may be related to an imbalanced autonomic nervous system.  Other symptoms include palpitations; dull, lasting chest pain; fatigue; dizziness; and shortness of breath.

How do doctors diagnose mitral valve prolapse?

Doctors can identify a prolapsing mitral valve by the characteristic clicking sound heard in the middle of the heart’s contraction (mid-systolic click) followed by a whooshing sound heard during the end of contraction (late systolic murmur).  An echocardiogram can help a doctor confirm his diagnosis. 

What are the treatment options for mitral valve prolapse?

The majority of patients with mitral valve prolapse do not require treatment, but because they are more susceptible to an infection in the heart (endocarditis), doctors often prescribe antibiotics to patients with the condition before a procedure that might expose them to bacteria in the bloodstream.  Patients with severe prolapse or regurgitation may require medication or surgery.  Beta-blockers can help by reducing the strain on the left ventricle so that the mitral valve will be less likely to prolapse.  Aspirin and blood thinners like Coumadin can help prevent blood clots from forming and may be especially necessary if a patient has had a stroke. 

If a patient’s mitral valve is causing his heart to fail or enlarge, he may need to have the valve surgically repaired or replaced.  Mitral valve repair can involve a catheter-based procedure like valvuloplasty or annuloplasty to change the shape of the mitral valve or open surgery to reconnect leaflets and remove excess tissue.  The mitral valve may be beyond repair and need to be replaced by an artificial mechanical or biological replacement valve.  Mechanical valves usually last longer than biological replacements, but they are more likely to promote blood clotting.  Biological valves may need to be replaced again, because they usually do not last as long as their mechanical counterparts, but they are less likely to cause blood clotting problems.

Myocardial Infarction or Heart Attack

A heart attack, or myocardial infarction, begins when a portion of the heart muscle suddenly loses its blood supply due to an obstruction of the coronary arteries. The obstruction is typically due to coronary arteriosclerosis. If the obstruction persists for more than a few minutes, the affected cardiac muscle tissue will begin to die. This is known as a heart attack. A brief obstruction that resolves itself will cause chest pain (angina pectoris), but often results in minimal or no cardiac muscle damage.

Medications are typically administered within four to six hours of a heart attack to dissolve blood clots and reduce mortality rates. In some cases, interventional heart catheterization is required to restore blood flow. Survival of heart attacks are directly related to the amount of heart tissue affected by the obstruction, the time elapsed before treatment, and the physical condition of the victim and the heart at the time of the heart attack.

Myocarditis

Myocarditis is an inflammation of the muscle tissue of the heart. Initially, the symptoms are mild and vague, with fatigue, shortness of breath, and occasional palpitations occurring. Heart failure may develop and blood clots form.

The causes of myocarditis include various infections; some conditions such as lupus or rheumatic fever; and certain drugs, particularly those used in the treatment of cancer. Treatment typically focuses upon the cause once it is discovered. The patient often requires complete bed rest and may even require oxygen. Corticosteroids may be used.

Pericarditis

An inflammation of the membranous sac that surrounds the heart (the pericardium) is called pericarditis. A wide variety of conditions may cause pericarditis, but the most common cause is a viral infection. Other causes include bacteria, tuberculosis, rheumatoid arthritis, systemic lupus erythematosus, and uremia. It may also occur as a complication of cancer of nearby organs, such as the esophagus or lungs.

The most common symptom of pericarditis is pain in the center of the chest, which may vary in intensity and usually worsen by movement of coughing. Other common symptoms include fever, breathlessness, coughing, and rapid pulse.

Treatment is usually directed at the underlying cause of the pericarditis. Painkillers are typically prescribed in the early stages of the disease. Antibiotics may be used when viral infection is the cause. Other forms of treatment may be used if complications develop.

Pericarditis may cause serious complications. The most serious complication is the accumulation of fluid in the pericardium (pericardial tamponade). This causes pressure on the heart and a rapid heart rate. Another form of pericarditis called constrictive pericarditis causes scarring and thickening of the pericardium. This condition may lead to progressive heart failure with progressive shortness of breath, enlargement of the liver, plus edema (accumulation of fluid) in body tissues and cavities.

Peripheral Vascular Disease / Peripheral Arterial Disease

What is peripheral vascular disease?

Peripheral vascular disease is a term doctors use to describe diseases of the blood vessels that carry blood to and from the body excluding those that carry blood to and from the heart and brain.  Two types of peripheral vascular diseases exist, functional and organic.  Functional vascular diseases, like Raynaud’s disease are usually short term and involve muscle spasms that come and go.  Organic vascular diseases like peripheral arterial disease, however, involve structural problems in blood vessels like inflammation and tissue damage.

What is peripheral arterial disease?

Peripheral arterial disease is the most common form of peripheral vascular disease, and doctors often use the two terms interchangeably.  In this condition, the blood vessels that carry blood away from the heart (arteries) become hardened and restricted due to fatty deposits that build up on their walls, a disease process called atherosclerosis or arteriosclerosis.  This condition is closely associated with coronary and carotid artery diseases, diseases in which the arteries supplying the heart and brain become narrowed by the same atherosclerotic process that affects peripheral arteries.  Arteries of the legs, arms, and kidneys are most often affected by peripheral arterial disease, but the disorder can limit blood flow to any organ.

What are the risk factors for peripheral arterial disease?

This disease affects approximately 10 million people in the U.S. and usually occurs in patients 50 years and older.  With 5% of people over 50 and 20% of people over 70 affected, peripheral arterial disease is the most significant cause of disability among the elderly.  Smokers are 3-4 times more likely to have peripheral arterial disease than nonsmokers.  In addition to age and smoking history, risk factors for the condition include a family history of atherosclerosis or coronary artery disease, obesity, diabetes, physical inactivity, high blood pressure, kidney disease requiring hemodialysis, high LDL and low HDL cholesterol, and high cholesterol or high saturated fat diets. 

What causes peripheral arterial disease?

Peripheral arterial disease usually occurs due to atherosclerotic narrowing in the arteries of the body.  Atherosclerosis will often affect the blood vessels of the arms and legs before affecting those of the heart and brain.  Atherosclerosis occurs when fatty substances combine with cholesterol, cellular waste, and calcium to form a plaque that builds, lining an artery and causing it to become narrow and hard.  This plaque can inhibit blood flow and can break off and lodge in smaller blood vessels.  Atherosclerosis occurs by a complex process of damage beginning in childhood and continuing to develop throughout adult life.   Blood vessel damage because of an arm or leg injury or infection may also cause peripheral arterial disease.

What are the symptoms, dangers, and complications of peripheral arterial disease?

Many people are diagnosed with peripheral arterial disease even though they have no symptoms.  The symptoms of peripheral arterial disease vary according to the body part or organ affected.  Ischemia occurs when a part of the body does not get the oxygen it needs because of limited blood flow.  If ischemia occurs in the legs or arms, it can cause coldness, bluing, or even tissue death called gangrene.  If it occurs in the heart, it causes a heart attack; in the brain, it causes a stroke.  Symptoms of peripheral vascular disease in the arms and legs include the following: leg pain called intermittent claudication that occurs when a patient walks but stops when the patients rests; numbness in the arms, legs, or feet at rest; loss of hair on the legs or feet; paleness or cyanosis of the legs; and faint or absent pulse in a limb.  Complications can usually be prevented with adequate treatment, but may include limb injury or infection, open sores called ischemic ulcers, and impotence.  Smoking, uncontrolled diabetes, and hypertension can accelerate the progression of this disease.  Patients with peripheral arterial disease should, if they have not already been diagnosed with a heart condition, be cautious because of this condition’s close association with cardiac problems.  Seventy five percent of people with peripheral arterial disease, when they die, die of a coronary or cerebrovascular event, generally a heart attack or stroke.

How do doctors diagnose peripheral arterial disease?

If a patient presents with symptoms or a decreased pulse in the extremities, a doctor may want to see if there is an abnormal difference between the blood pressure in the ankle and arm; the result of this test is a ratio called the ankle/brachial index (ABI).  A normal ABI would indicate that the blood pressure in the arteries of the ankles is at least 90% of the blood pressure in the arm.  Additionally, he may want to see the results of a doppler ultrasound in the affected extremity.  A Doppler ultrasound is noninvasive and uses sound waves to measure flow rates in blood vessels in order to detect narrowing or blockages.  An angiogram may help him by showing him a picture of the arteries so that he can see the extent of the damage and investigate options for treatment. To obtain an angiogram, a doctor injects dye into an artery to see it in an x-ray. 

What are the treatment options for peripheral arterial disease?

For many patients, lifestyle changes alone are sufficient to manage peripheral arterial disease.  For other patients, dieting, exercising, and quitting smoking will not be enough to help their symptoms or stop the progression of their artery disease, and they may need to take medications or have a procedure.  Medications can help a patient lower his LDL cholesterol and blood pressure, prevent or dissolve blood clots, and reduce leg pain.  Statins are drugs that can help lower cholesterol.  Angiotensin-converting enzyme (ACE) inhibitors, angiotensin receptor blockers (ARBs), beta blockers, calcium channel blockers, and diuretics can help lower blood pressure.  Cilostazol and pentoxifylline are drugs that can help a patient walk longer without leg pain by increasing the amount of blood that can reach legs. 

If arterial damage is severe and blood flow to a limb is considerably blocked such that symptoms are disabling, pain from inadequate circulation to an extremity occurs at rest, or limb loss is imminent, a patient may need to have a procedure to restore blood flow (revascularization procedure).  In serious cases when a blockage in an artery extends over a long portion, a surgeon may perform a bypass grafting surgery by either using a synthetic (man-made) blood vessel or removing a vein from another part of the body and placing it as an alternative route so that blood can bypass an occluded artery.  Catheter-based procedures are less invasive methods that can be used in many cases instead of an open surgery bypass graft.  To access the blocked artery, a doctor makes a small incision through which he inserts a thin wire to thread to the site of the problem.  At the blocked point, the doctor can perform what is called an angioplasty by inflating a small balloon at the end of the wire to force the blood vessel to become larger.  Doctors usually place a small, netted tube called a stent at the blocked point to help keep the artery open.  A patient may need thrombolytic therapy if his artery has been blocked by a blood clot.  This procedure is similar to angioplasty, but instead of inflating a balloon at the narrowed point, the doctor will inject drugs that are designed to dissolve clots in order to clear the artery and restore circulation to a restricted limb.

The most important therapy for patients with peripheral arterial disease is exercise.  Patients afflicted with this condition should start slowly if necessary but should begin a program in which they exercise at least 3-4 times a week.  When exercising, people with intermittent claudication need to alternate exercise and rest periods as they try to increase the amount of time that they can exercise without having to stop because of leg muscle pain.

Pulmonary Embolism

What is pulmonary embolism?

Pulmonary embolism is a life-threatening condition occurring in more than 600,00 people in the U.S. each year when a blood clot forms in part of their body, typically the legs (as a complication of deep vein thrombosis), and breaks off to travel to and lodge in one of the small blood vessels of the lungs.  A blocked blood vessel in the lungs is a medical emergency that can occur suddenly and cause symptoms immediately and death within an hour.

What causes pulmonary embolism?

Ninety percent of pulmonary embolisms occur as a complication of a condition called deep vein thrombosis.  When these two conditions occur together, doctors refer to the combination as venous thromboembolism.  Deep vein thrombosis involves blocked circulation in a leg due to a clot that has lodged in one of the deep, large veins.  When one of these clots or a piece or pieces of them breaks off and travels back through a vein to the heart and out to the lungs, it can lodge in an artery supplying the lungs.  Blood clots from elsewhere in the body or other substances like fat globules, tumor tissues, or bacterial clumps can travel to the lungs and block blood vessels as well. 

What are the risk factors for pulmonary embolism?

People who have or are at risk for having deep vein thrombosis are at risk for pulmonary embolism, in addition to people who have previously had a pulmonary embolism.  Risk factors for deep vein thrombosis include inherited blood clotting disorders; damaged deep veins; decreased blood flow in the legs from prolonged sitting, standing, or immobilization; cancer and cancer treatment; varicose veins; pregnancy; age greater than sixty; obesity; birth control pills or hormone therapy; recent surgery; heart disease; previous stroke or heart attack; and having a central venous catheter.

What are the symptoms, dangers, and complications of pulmonary embolism?

Sixty thousand (60,000) people (10% of those who have pulmonary embolisms in the U.S.) die due to this condition, with most of these people dying within an hour from the time of their first symptoms.  A pulmonary embolism causes problems because it can decrease blood flow to the lungs to insufficient levels, which can permanently damage parts of a patient’s lung, decrease blood-oxygen levels, and damage other organs because of inadequate oxygen supplies.  The symptoms and complications vary according to the extent of the blockage.  Large clots cause the most damage and have symptoms that are more sudden and severe.  Small clots may cause no symptoms, or cause symptoms to build gradually as the clots slowly pile up to reduce blood flow.  Symptoms of a pulmonary embolism can include shortness of breath; chest pain that increases when a patient breaths deeply, coughs, or moves his chest; and coughing up blood.  Other symptoms that are less-specific include anxiety, lightheadedness, fainting, rapid breathing, increased heart rate, a bluish tint to the skin, and excessive sweating.

How do doctors diagnose pulmonary embolism?

A patient history and physical examination may lead a doctor to suspect a pulmonary embolism.  He will take note of any risk factors for pulmonary embolism and deep vein thrombosis.  He will pay special attention to a patient’s legs—to look for signs of deep vein thrombosis—as well as to his heart rate and blood pressure because an elevation in these can indicate that the heart is having to work harder than usual in order to compensate for lungs that are not functioning properly. 

Some tests may be helpful in determining what is causing problems and confirming a diagnosis.  Doctors will want to look at both the heart and the lungs to confirm a diagnosis and to decide if a patient requires aggressive treatment. 

An electrocardiogram (ECG or EKG) will show the rhythm and rate of a patient’s heartbeat.  A chest x-ray will give doctors a picture of the heart, lungs, and larger arteries so that they can look for problems like a blockage in the lungs or an enlarged right ventricle (the right ventricle is one of the four chambers of the heart and is responsible for pumping blood out to the lungs).  A duplex ultrasound is a test for clots in a patient’s legs that involves using sound waves to generate a picture of the leg veins. 

Blood tests can show whether or not a patient has an inherited disorder that is causing the clots.  One blood test, an arterial blood gas measurement, can show the levels of oxygen and carbon dioxide in the blood.  This can be useful because a pulmonary embolism can decrease the oxygen level while increasing the carbon dioxide level.  Another useful blood test is called a D-dimer test.  This test measures blood levels of a protein that is released when a clot is dissolving in the blood.  If this measurement is high, a clot is present, while if it is normal, it is unlikely that a patient has a pulmonary embolism.  A doctor may want to see the level of cardiac troponin in the blood because an elevated level can indicate damage to the heart. 

A ventilation-perfusion lung scan (VQ scan) shows the blood flow to the lungs using a radioactive material.  Pulmonary angiography is a more invasive test in which a doctor uses a small plastic tube called a catheter to inject dye into a blood vessel to take an x-ray picture that shows blood flow to the lungs.  A spiral computed tomography (CT) scan is an x-ray that also uses dye injected into a vein to see blood flow to the lungs.  Magnetic resonance imaging (MRI) is an imaging technique that uses magnets and radio waves to form a picture of the inside of the body.  An echocardiogram uses sound waves to look for clots in the heart and make observations about heart function; doctors may use this test to see if a patient’s symptoms are the result of another condition as well as to look for right ventricular enlargement and dysfunction. 

What are the treatment options for patients with pulmonary embolism?

Timely treatment with blood thinners like heparin is often critical to stop the clot from increasing in size and prevent other clots from forming and blocking circulation around the lungs.  Treatments for pulmonary embolism can include drugs; emergency clot-dissolving treatments; procedures aimed to restore adequate blood flow and prevent future clots; as well as simple, preventative measures aimed to reduce the risk of a recurrence.

The most common medicines used to treat pulmonary embolisms are anticoagulants (blood thinners).  These drugs deprive the blood of ingredients necessary to form blood clots, but they do not break up clots that have already formed.  The body gradually dissolves clots by itself.  So, if expedience is not critical, doctors use anticoagulants, because, by preventing blood clots from growing, they use the body’s own mechanism to slowly clear blockages.  Warfarin (coumadin) is an oral anticoagulant that takes 2-3 days to begin working, while heparin is an intravenous treatment that acts immediately.  Thrombin inhibitors are new medications that prevent clotting in patients who cannot take heparin.

In emergency situations, doctors may inject thrombolytic medications by a catheter at a severely blocked point to quickly dissolve a large clot and restore blood flow.  Blood clots may also be surgically removed in an invasive, open surgery called pulmonary embolectomy or extracted in a minimally-invasive, catheter-based procedure called suction thrombectomy. 

Sometimes, other treatments are necessary.  Vena cava filters are filters that surgeons can place in a large vein to filter out blood clots before they can enter the heart from venous circulation.  These filters catch blood clots from the legs before they can be pumped to the lungs, and doctors may use them when medication is either ineffective or not an option.  Compression stockings can help prevent blood from pooling in the legs and clotting.

Doctors may be able to help a patient prevent pulmonary embolism by treating deep vein thrombosis.  Some easy steps to prevent a future pulmonary embolism may involve wearing sleeve-like devices called pneumatic compression devices that rhythmically squeeze legs during and after future surgeries until a patient has recovered and can walk again.  Patients should walk around or flex their legs every hour on plane rides or car trips to help prevent blood from pooling and should regularly exercise to promote a healthy heart and good circulation.  Obese patients should lose weight, and smokers should quit smoking to reduce their risk for recurrence.

Raynaud’s Phenomenon

What is Raynaud’s phenomenon?

Raynaud’s phenomenon is a condition affecting an estimated 5-10% of Americans in which the blood vessels of the fingers and toes and sometimes those of the earlobes, nose, and lips overreact to cold temperatures, stress, or other stimuli by having spasms and constricting (narrowing) too much and for too long.

What causes Raynaud’s phenomenon?

Two types of the condition exist depending on the cause.  Primary or idiopathic Raynaud’s phenomenon, which doctors call Raynaud’s disease or Raynaud’s syndrome, is not associated with another known condition and has no known cause other than a malfunction of the nerves controlling the muscles responsible for changing blood vessel diameter.  Secondary Raynaud’s phenomenon is a disorder that is associated with another condition, typically an autoimmune disease.  Primary Raynaud’s is more common and generally causes fewer complications than secondary Raynaud’s.  Various diseases can accompany secondary Raynaud’s phenomenon, but two of the most common are scleroderma and mixed connective-tissue disease.  Between 85 to 95% of patients with these conditions also have Raynaud’s phenomenon.  Other possible causes for Raynaud’s include lupus, frostbite, vibration injury, polyvinyl chloride exposure, cryoglobulinemia, rheumatoid arthritis, atherosclerosis, some cancers, hormone imbalance, and smoking. 

What are the risk factors for Raynaud’s phenomenon?

Women are 5 times more likely to be affected with Raynaud’s than men, and they are most likely to begin to have symptoms between age 20 and 40.  People with a condition that is known to be associated with Raynaud’s, for example, scleroderma, mixed connective tissue disease, or lupus, are at an increased risk for developing Raynaud’s.  Smokers, alcohol abusers, and patients who have had prolonged exposure to cold temperatures, experience working with vibrating machinery, or a helicobacter pylori infection are also more likely than others to begin having the symptoms of Raynaud’s phenomenon.

What are the symptoms, dangers, and complications of Raynaud’s phenomenon?

While Raynaud’s phenomenon can cause a digit to need amputation, this condition is usually not threatening and serious complications are rare.  The symptoms of a classic spasm attack include digits that turn white and feel cold and numb as blood vessels narrow to limit blood flow.  As the spasm continues, the digits can turn blue from a prolonged lack of fresh blood with high oxygen content.  Once the spasm ends, the blood vessels may overreact in the opposite direction and dilate to clear wastes and deliver oxygen to the tissue that was deprived during the period of blood vessel constriction.  This dilation turns fingers red and can cause them to tingle or throb painfully once the initial numbness wears off.  The series of colors that a patient experiences is not always the standard white, then blue, then red: some patients can skip a color or the colors can be out of order.  In addition to varying in color sequence, these attacks can also vary in duration from less than a minute to several hours. 

Primary Raynaud’s phenomenon is less likely to cause serious complications than secondary Raynaud’s.  Skin ulcers that can become infected, gangrene, heartburn, and difficulty swallowing are all complications that can be related to Raynaud’s phenomenon. 

How do doctors diagnose Raynaud’s phenomenon?

Diagnosing Raynaud’s phenomenon frequently depends upon a patient’s description of the vasospasm attacks because there are no simple tests to confirm the diagnosis.  However, most of those affected have characteristic symptoms with a uniform series of color changes, so doctors usually have little difficulty determining that a patient is affected by Raynaud’s phenomenon.  The challenging portion of the diagnosis is determining whether or not the vasospasms are related to another condition and then identifying the underlying condition if present.  Viewing an altered structure of the capillaries (tiny blood vessels connecting arteries to veins) in a patient’s digits under a microscope can alert a physician of a rheumatic condition that may be causing the spasms.  Blood tests can also help doctors investigate causes like rheumatic conditions or a thyroid gland disorder.  Antinuclear antibodies (ANAs) are proteins that patients produce when they have autoimmune disorders like connective tissue diseases; testing for their presence in patients with Raynaud symptoms can help a doctor determine whether their disease is associated with another problem.

What are the treatment options for patients with Raynaud’s phenomenon?

Most patients do not need any invasive medical treatment for Raynaud’s phenomenon.  They should try to avoid cold or stressful situations and chemicals that can cause attacks by staying inside during cold weather or dressing warmly, wearing gloves when handling cold objects, wearing wool or synthetic socks rather than cotton, avoiding working with vibrating machinery, not consuming large amounts of caffeine, not taking decongestants containing pseudoephedrine, and quitting smoking because nicotine acts as a vasoconstrictor and can trigger attacks.  Patients should not ignore attacks, but, when they happen, should try to restore circulation to their digits by warming their hands and feet.  They should go indoors in cold weather and run warm water over their fingers and toes or soak them in a bowl of warm water.  Also, they should get out of any stressful situations and relax. 

For primary Raynaud’s, calcium channel blockers like nifedipine at low, slow releasing doses can help prevent spasms by keeping blood vessels dilated.  Angiotensin-converting enzyme (ACE) inhibitors, prostaglandin, and fluoxetine may also help patients prevent their vasospasm attacks. 

When doctors treat patients with secondary Raynaud’s, they focus on treating the underlying disorder, but, there is unfortunately no effective therapy for the autoimmune disorders that are usually associated with Raynaud’s phenomenon.  Doctors might prescribe nitroglycerin paste for a patient to apply to ulcers in order to dilate blood vessels and increase local circulation.

Sympathectomy is an invasive, surgical treatment option for severe cases of either primary or secondary Raynaud’s.  This surgery involves disconnecting the arteries from the sympathetic, autonomic nerves that control their dilation (widening) and constriction (narrowing). 

Renal Vascular Disease

What is renal vascular disease?

The term “renal vascular disease” refers to several problems that can affect the blood vessels servicing the kidneys.  The word “renal” means that this condition relates to the kidneys, and “vascular” means that these problems have to do with vasculature, that is, the blood vessels that conduct oxygen-rich blood to the kidney away from the heart (arteries) as well as those that carry oxygen-poor blood from the kidney back to the heart (veins).  Each of a person’s two kidneys has an artery supplying it that branches off of the aorta and into smaller and smaller arteries before flowing through two sets of the tiniest blood vessels (capillaries) and converging back into veins.  Problems that prevent blood from flowing properly through the kidneys often cause high blood pressure that is unmanageable even when a patient is taking three blood pressure medications.  In fact, renal vascular disease is the most important cause of secondary hypertension (high blood pressure attributable to a known cause).

What are the types of renal vascular disease, and how are they different?

Renal vascular disease can refer to stenosis, thrombosis, atheroembolism, or aneurysm in an artery or vein supplying the kidneys. 

In patients with renal artery stenosis, an artery supplying one of the kidneys has become blocked and is limiting that kidney’s blood supply. 

Renal artery thrombosis and renal vein thrombosis occur when a blood clot forms in a renal artery or vein.  These blood clots can impede normal renal blood flow. 

In patients with atheroembolic renal disease, a large number of tiny crystals that have broken off of plaque that has formed due to atherosclerosis of another artery travel to the kidneys and lodge in the smallest arteries.  This process usually affects both kidneys simultaneously and equally.  These crystals prevent blood from reaching areas of the kidney and can cause kidney failure. 

When part of one of the renal arteries becomes more than 1.5 times its normal size because of local damage or weakness in the vessel, doctors call the problem a renal artery aneurysm.  Renal artery aneurysms are much less common than aneurysms in the thoracic and abdominal aorta.

What are the risk factors for renal vascular disease?

Most types of renal vascular disease are more common among older and female patients.  Other risk factors for renal vascular disease include smoking and conditions such as atherosclerosis, high blood pressure, high cholesterol, and diabetes.

What causes renal vascular disease?

Many different processes can cause the different types of renal vascular disease. 

Causes of renal artery stenosis
The arteries carrying blood to the kidneys can become narrowed due to atherosclerosis, fibromuscular dysplasia, or Takayasu’s arteritis.  Atherosclerosis is usually the cause of renal artery stenosis among the elderly.  It refers to the hardening of the arteries that occurs when a plaque made up of fatty deposits of cholesterol, cellular wastes, calcium, and other substances adheres to the inside lining of blood vessels. This build-up can reduce the size of the inside of the kidney arteries.  Fibromuscular dysplasia is a condition that most often affects young women and has no known cause, though a history of tobacco use and a positive family history for the disorder both increase a patient’s risk for developing the disease.  In patients with fibromuscular dysplasia, the muscle and fibrous tissues in some of their arteries become thick and hard, forming rings that reduce blood flow to the organs they supply.  Fibromuscular dysplasia can affect any organ in the body by reducing its blood supply; when the condition affects the renal arteries, it can cause renal artery narrowing (stenosis) as well as bulges called aneurysms between the thickened rings.  Occurring 4 to 9 times more often in women than men and particularly more prevalent among female Asians, Takayasu’s arteritis is a rare condition involving chronic inflammation of the larger arteries.  Though this condition usually affects the arteries of the arms and brain, it can affect the blood supply of any organ.  When affecting the kidney arteries, Takayasu’s arteritis can cause narrowing, a complete blockage, or bulges.

Causes of renal artery thrombosis and renal vein thrombosis
The renal blood vessels can become occluded if a blood clot develops because of trauma, infection, inflammatory disease, or renal artery aneurysm.  These clots can develop in both arteries and veins.  Pregnancy; vein compression due to an abnormally large, adjacent structure such as a tumor or renal artery aneurysm; nephrotic syndrome; steroid medications; and oral contraceptives can all cause clots to develop in the renal veins.  Nephrotic syndrome is a condition in which the parts of the kidneys that act as blood filters become damaged and allow too much protein to leak out of the blood and pass into urine. 

Causes of renal artery aneurysms
Bulges called aneurysms can occur in the arteries supplying the kidneys due to trauma, atherosclerosis, fibromuscular dysplasia, or congenital blood vessel weaknesses. 

Causes of atheroembolic renal disease
Severe atherosclerosis can cause atheroembolic renal disease without another aggravating condition, or some type of trauma can disturb moderate atherosclerosis to cause the disease. In this disease, tiny pieces of a plaque that has built up on the inner lining of a blood vessel break off and lodge in the small blood vessels in the kidneys causing them to become inflamed and preventing blood from reaching areas of the organs.  Cardiac catheterization and aortic surgery can cause atheroembolic renal disease because these procedures can aggravate the lining of an atherosclerotic aorta causing plaque crystals to break off into the bloodstream.

What are the symptoms, dangers, and complications of renal vascular disease?

The symptoms of renal vascular disease can be different for each of the different types of disease, but all of the types of renal vascular disease can cause kidney failure. 

Renal artery stenosis and renal artery thrombosis are important causes of high blood pressure because as they limit the amount of blood that can reach the kidneys, the kidneys respond by triggering the production and release of hormones that raise blood pressure in an effort to increase the amount of blood that can get to them.  Partially blocked renal arteries may cause no symptoms or a gradual onset of high blood pressure.  If an artery becomes severely blocked, symptoms can include fever; nausea; vomiting; urine discoloration; an excess of the waste product, urea, in the blood; and back pain.  If the blood supply to both of the kidneys becomes totally occluded, the kidneys completely shut down (acute kidney failure) and urine production ceases.  Sometimes, doctors will prescribe an angiotensin-converting enzyme (ACE) inhibitor or an angiotensin II blocker to a patient who they believe to have essential hypertension (high blood pressure with no identifiable cause).  Physicians commonly prescribe these medicines to fight high blood pressure, but if a patient’s blood pressure is gradually increasing due to progressive blockages in the renal arteries, the medicines may cause the patients kidneys to quickly fail.  This side-effect will reverse and the kidneys will start working again if the patient promptly stops using the medicine that is causing the problem (upon consulting his or her physician).

A chronic blockage in the renal veins usually does not cause symptoms, but if a vein is suddenly or severely occluded, symptoms such as severe pain between the ribs and the top of the hip, soreness in the area where the kidneys sit between the ribs and the backbone, and decreased kidney function may occur.

Atheroembolic kidney disease usually causes the kidneys to fail gradually, but when the condition has been caused by blood vessel trauma, it can rapidly affect the kidneys and cause their functioning to decline quickly.  Symptoms include decreased urine production as well as generalized symptoms such as fatigue, nausea, and appetite loss.  Atheroemboli can affect other areas of the body in addition to the kidneys.  The skin can become discolored or gangrenous and problems with circulation to a patient’s eyes can lead to blindness.  Small strokes can occur if atheroemboli reach blood vessels in the brain.

Renal artery aneurysms, like most aneurysms, usually cause no symptoms and are discovered during a diagnostic imaging test that was done to investigate a separate problem.  Hypertension (high blood pressure) is often present in patients with renal artery aneurysms and may or may not be associated with the aneurysm.  A dissecting aneurysm, which is an aneurysm that occurs when the innermost lining of an artery tears, may cause pain between the ribs and the top of the hip as well as blood in the urine. 

How do doctors diagnose renal vascular disease?

If a patient comes to his doctor with symptoms of a renal vascular disease, the doctor may want to use one or more of several available laboratory tests and imaging techniques to investigate the problem.  If the doctor suspects a blockage in the kidney blood vessels, he may want to see the results of laboratory tests such as a complete blood count, lactate dehydrogenase level, and urinalysis.  Lactate dehydrogenase levels are usually elevated when an organ has been damaged.  Physicians must use imaging techniques that show them a picture of what is happening in the kidneys in order to accurately confirm a diagnosis because the symptoms and blood tests are usually not sufficiently specific to rule out other possible causes.  Intravenous urography and radionuclide scanning can both show whether or not the blood flow to the kidneys is reduced.  Retrograde urography or an ultrasound of the kidney both can help a physician determine whether or not the cause of reduced blood flow to the kidneys is a renal vascular disease.  Angiography, also known as arteriography, is a more invasive, but also more definitive imaging technique that doctors may want to use to get x-ray images of the blood vessels around the kidney.  To obtain these images, a doctor must insert a small, flexible, hollow wire into an artery (usually the femoral artery in a patient’s leg), thread it to the kidney vessels, and inject a contrast dye that makes blood vessels show up on an x-ray.  Doctors usually only perform an angiography if they are considering a surgical intervention to fix whatever problem they believe to be present.  Spiral computed tomography (CT) is a technique that doctors can use as an alternative to angiography, because a spiral CT also gives an accurate picture of kidney veins. 

What are the treatment options for renal vascular disease?

If, during a diagnostic angiogram, a physician finds that a patient’s renal artery or one of its branches is reduced to at least 20% of its normal size, he or she may decide to perform an angioplasty.  Angioplasty is a minimally-invasive procedure in which a physician threads a catheter through a leg artery to an occluded blood vessel and inflates a balloon on the tip that expands to force the artery to become wider.  He or she may also place a stent at the same point in the artery in order to keep the vessel from collapsing.  If angioplasty and stent placement is insufficient to restore circulation to the restricted area, a patient may need to have an invasive, open surgery to remove a blockage or bypass the occluded point altogether.

Patients who have renal artery or vein thrombosis must often take anticoagulants (blood thinners) such as Coumadin or Warfarin in order to prevent further clotting and give the body a chance to dissolve the existing clot.  Thrombolytic medications actively dissolve clots and may be able to help a patient who has a severe blockage if he is able to restore blood flow to the restricted area within three hours of the initial clot.

Sometimes, doctors are unable to restore circulation and the kidneys shutdown.  When this happens and doctors cannot restore kidney function, it is called kidney failure.  If the underlying cause cannot be treated, the only treatment options for advanced kidney failure are dialysis or transplant.  Kidney failure occurs when the kidneys are no longer able to do their job, when they shut down and can no longer filter blood to remove wastes and monitor its volume and contents.  Dialysis is a treatment in which patients come to a treatment center several times a week to let a machine filter their blood.

Rheumatic Heart Disease

What is rheumatic heart disease?

In the early 1900s, before the advent of widespread antibiotics to treat strep throat, rheumatic heart disease was the most important cause of heart valve diseases and the leading cause of death for 5-20 year-olds in the U.S.  While rheumatic heart disease is now rare in developed countries, its incidence rate has not decreased in developing countries.  A patient with rheumatic heart disease suffers from potentially life-threatening problems due to valves and other heart tissues that have been damaged as a complication of rheumatic fever, an inflammatory condition that can occur 1-5 weeks after an untreated streptococcal (strep throat) infection. 

Rheumatic heart disease includes both an initial pancarditis (inflammation of the outer, middle, and inner layers of the heart muscle and lining) that resolves within several weeks and permanent, chronic heart valve damage that can last a lifetime.  Rheumatic fever can affect a person at any age, but it is most common among children 5-15 years old.  Rheumatic fever can cause inflammation problems in connective tissue throughout the body including the heart, brain, joints, and skin.  In 80% of patients, rheumatic fever subsides within 12 weeks, but the effects of rheumatic heart disease can last the rest of a patient’s life.  Actually, symptoms involving the heart valves may not surface until 20 or 30 years later.  Rheumatic fever and rheumatic heart disease are rare, even among patients who have had untreated strep throat infections and rheumatic fever does not always damage the heart to cause rheumatic heart disease.

What causes rheumatic fever and rheumatic heart disease?

Scientists do not know exactly how a streptococcus infection in the throat causes rheumatic fever in some patients, but they suspect that the condition involves a disordered autoimmune response to the infection.  When rheumatic fever occurs, it always follows a bacterial infection in the throat by group A beta-hemolytic streptococcal pharyngitis, though sometimes the infection can be present without causing any of the symptoms of strep throat.  These bacteria have antigens (parts on the surface of an organism’s cells that the body uses to identify and fight foreign germs) that are similar to parts on the surface of some cells in the heart.  Because of this similarity, some scientists think that the body can get confused and start hurting itself, causing rheumatic fever and heart disease by what researchers call antibody cross-reactivity.

What are the symptoms, dangers, and complications of a strep throat infection, rheumatic fever, and rheumatic heart disease?

A streptococcal infection in the throat does not always cause symptoms, and it is possible for a person’s symptoms to be so mild that he gets rheumatic fever without knowing that he had strep throat a few weeks earlier.  The symptoms of strep throat can include a sore, scratchy throat; fever; difficulty swallowing; headache; rash; stomach pain and vomiting in young children; red, swollen tonsils; and tender, swollen lymph glands in the neck.  Most sore throats are caused by viral infections and need no treatment to quickly go away on their own.  Some, however, are the result of strep throat bacterial infections.  It is important to identify strep throat because not only does it respond well to treatment (unlike cold viruses), but the infection, if left untreated, can lead to rheumatic heart disease and other serious complications.

When rheumatic fever damages heart valves to cause rheumatic heart disease it can cause one or more valves to open and/or close incompletely.  The mitral and aortic valves on the left side of the heart are more susceptible to damage by this disorder than the two valves on the right side of the heart, the tricuspid and pulmonary valves.  The most serious and most advanced possible consequence of altered valve function is congestive heart failure, a condition in which the heart becomes unable to pump hard enough to supply the body with enough blood to maintain normal function because the diseased valve or valves have severely decreased its efficiency.

Rheumatic fever can produce a wide variety of symptoms.  Fever, rash, headache, weight loss, nose bleeding, fatigue, excessive sweating, stomach pain, chest pain, new heart murmurs, shortness of breath, and vomiting are some of the general symptoms.  More specific symptoms include joint swollenness and pain that moves from joint to joint among different large joints such as the ankles, wrists, knees, and elbows; small lumps under the skin; personality changes such as increased irritability and decreased attention span; and involuntary movement or decreased control of muscles.  Spasmodic involuntary muscle movements are due to rheumatic inflammation of the central nervous system (the brain and spinal cord).

Symptoms of rheumatic heart disease include murmurs, a heart rate that is rapid and out of proportion to any fever that is present and other symptoms of heart valve diseases and congestive heart failure such as shortness of breath, decreased endurance, swelling, chest pain, and fatigue.

How do doctors diagnose strep throat, rheumatic fever, and rheumatic heart disease?

Physicians usually look for evidence of strep throat before diagnosing rheumatic fever or rheumatic heart disease.  The physical symptoms of strep throat are not specific enough to allow doctors to diagnose the illness without laboratory tests.  Several tests can help a doctor see if group A streptococcal bacteria are present in a patient’s throat.  A rapid antigen test is a throat swab test that only takes about 15 minutes to develop but has an error rate of 20%.  This means that a negative rapid strep test cannot rule out strep throat as a possible cause of a patient’s symptoms.  Therefore, patients who have a negative result must have their throat swabs cultured to see if the bacteria are present in their throats.  A throat culture usually takes 24-48 hours to develop and can definitively show doctors whether or not a patient has strep throat.

Doctors usually diagnose heart-related symptoms as rheumatic heart disease after diagnosing rheumatic fever.  To diagnose rheumatic fever, doctors may use a set of guidelines called the “modified Jones criteria.”  They will be highly suspicious of a recurring attack in patients previously diagnosed with rheumatic fever.  A recent strep throat infection is not necessary to diagnose rheumatic fever in recurring rheumatic fever patients because they are much more susceptible to an attack.  In order to have a firm diagnosis of patients with no history of rheumatic fever, however, physicians usually try to confirm first that a strep throat infection was present in the recent past and that at least 2 of the major criteria or 1 major and 2 minor criteria are present in the patient they are helping.  The major diagnostic criteria include an inflamed heart; arthritis (pain and inflammation) in more than one joint; involuntary movement and decreased control of muscles; wide, red patches of skin that do not itch; and lumps under the skin.  Doctors may be able to find evidence of an inflamed heart by asking about symptoms like weakness, shortness of breath, or chest pain, or by looking at an electrocardiogram (ECG or EKG), Doppler ultrasound, or chest X-ray.  The minor diagnostic criteria include fever, joint pain without inflammation, a specific electrocardiogram abnormality, and blood tests indicating inflammation.

How can patients prevent rheumatic heart disease?

It is not always possible to prevent rheumatic heart disease, but prompt antibiotic treatment of strep throat can drastically reduce a patient’s risk for developing rheumatic fever and rheumatic heart disease.  Also, continued long-term antibiotic treatment of patients who have already experienced an episode of rheumatic fever can help prevent recurring episodes and therefore decrease the likelihood of heart damage.  Thus, the best way to prevent rheumatic heart disease is to prevent rheumatic fever by treating strep throat infections or by taking preventative antibiotics for patients susceptible to a recurring attack.  Researchers estimate that about 3% of patients who allow strep throat to go untreated develop rheumatic fever.  Patients should consult their physicians when they have a sore throat without a cold or runny nose, one that lasts longer than 2 days or is accompanied by a fever higher than 101°F; tender or swollen lymph glands in the neck; pus in the back of the throat; excessive drooling in a young child; severe difficulty breathing or swallowing; a rough, red rash; or joint pain.  Once a patient goes to his physician, he should strictly comply with his doctor’s recommendations and should continue to take all of the prescribed antibiotics even after he has started to feel better.

What are the treatment options for rheumatic heart disease?

The first step in treating patients with rheumatic heart disease is to eradicate any remaining streptococcal bacteria with antibiotics.  Treating rheumatic fever can involve aspirin and perhaps corticosteroids to help with fever, pain, and inflammation until the attack subsides.  The use of steroids, however, is controversial, with some sources claiming them to be ineffective.  Children less than 20 years old should only take aspirin if a physician advises them to do so because studies have shown a link between children with flu-like illnesses taking aspirin and developing Reye’s syndrome.  Reye’s syndrome is potentially fatal and affects the blood, brain, and liver of patients who are recovering from viral infections.  Patients who have previously had a rheumatic fever attack may need to take long term antibiotics because they can help prevent future attacks and minimize heart damage.  Patients who adhere to their antibiotic regimens may see their heart valve problems subside.  If a person’s heart has become inflamed, he may need bed rest and medications to help with congestive heart failure.  Most valve damage by rheumatic heart disease is minimal and needs no serious treatment, but doctors may need to surgically repair or replace severely damaged heart valves with artificial, donated, or animal valves.  Surgical reparation procedures include both invasive, open-surgery techniques to widen valves or separate leaflets and less-invasive, catheter-based procedures such as balloon valvuloplasty to widen the opening.

In April 2007, the American Heart Association revised its recommendations about preventative antibiotics for patients with rheumatic heart disease.  The organization decided that because they found no convincing evidence that dental, gastrointestinal, or genitourinary tract procedures are related to developing bacterial endocarditis (BE), they now only recommend preventative antibiotics before dental procedures for patients with the highest risk for developing bacterial endocarditis.  High risk patients include those with prosthetic heart valves, previous endocarditis infection, or certain congenital heart diseases, but not those with rheumatic heart disease alone.  Furthermore, the association does not recommend antibiotics before gastrointestinal or genitourinary tract procedures for any patients, if the purpose of those antibiotics is solely to prevent bacterial endocarditis.  Bacterial endocarditis is infection and inflammation of the inner lining of the heart or its valves.


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