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Familial (Congenital) Heart Diseases

An Important Risk Factor

Family history is one of the most important risk factors for coronary artery disease or atherosclerosis. Many studies have found a two- to three-fold increase in risk for coronary artery disease in those with a first-degree relative with the condition.

Arrhythmias

There are a number of arrhythmias — conditions involving irregular heartbeats — that are congenital in nature, including:

  • Wolff-Parkinson-White syndrome
  • Long QT syndrome
  • Brugada syndrome

Cardiomyopathy

Cardiomyopathy is a serious illness in which your heart muscle becomes inflamed or weakened and has trouble pumping. There are several types of cardiomyopathy that run in families, including:

Arrhythmogenic Right Ventricular Dysplasia (ARVD)

Arrhythmogenic right ventricular dysplasia (ARVD) is a genetic, progressive heart condition in which the muscle of the right ventricle is replaced by fat and fibrosis. This causes abnormal heart rhythms or arrhythmias. ARVD increases the risk of harmful arrhythmias and sudden cardiac death. Young athletes are at increased risk.

Symptoms & Risk Factors

Symptoms

ARVD symptoms usually appear between puberty and age 50.

  • Palpitations
  • Chest pain (angina)
  • Lightheadedness
  • Fainting
  • Heart failure
  • Nausea
  • Dizziness

Risk Factors

  • Young athletes are at higher risk for ARVD.
  • A family history of sudden cardiac death.

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Diagnosing ARVD

It is often difficult to diagnose ARVD, as there is no one test that can definitively make or rule out the diagnosis. Your doctor will take your medical history and ask about your family history. A number of tests may need to be done, including:

Electrocardiogram

A painless, noninvasive test in which patches with electrodes are attached to your skin to measure electrical impulses produced by your heart. These impulses are recorded as waves displayed on a monitor or printed out on graph paper.

Stress Test

During a stress test, you exercise to make your heart work hard and beat fast while tests are done to look for abnormal changes to your heart rate or blood pressure, symptoms such as shortness of breath, or abnormal changes to your heart's electrical activity. Sometimes, a stress test is given using a radioactive dye, sound waves, or other imaging devices to take pictures of your heart when it's working hard and when it is resting.

Echocardiogram

Echocardiograms use sound waves to create a moving picture of your heart. An echocardiogram provides information about the size and shape of your heart, and how well your heart chambers and valves are functioning. An echo also can identify areas of poor blood flow to the heart, areas of heart muscle that aren't contracting normally, and previous injury to the heart muscle caused by poor blood flow. Echocardiograms are noninvasive and performed by placing a probe on your chest wall.

Magnetic Resonance Imaging (MRI)

An MRI scans the body using magnetic fields to create computer images of the body's soft tissues.

Holter Monitor

This portable device records all of your heartbeats over an extended period, usually either 24 or 48 hours. You wear small patches with electrodes on your chest that are connected by wires to a small, portable recorder. The recorder can be clipped to a belt, kept in a pocket, or hung around your neck. During the time you're wearing a Holter monitor, you do your usual daily activities.

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Treatment for ARVD

ARVD treatment is focused on controlling any arrhythmias and in managing any signs or symptoms of heart failure.

Medications

  • Antiarrhythmic drugs: Most patients with ARVD take antiarrhythmic drugs, which can help reduce the frequency and severity of arrhythmias.
  • ACE inhibitors: Medications reserved for patients with signs of heart failure, they make it easier for the heart to pump blood.

Implantable Cardioverter Defibrillator (ICD)

Implantation of an ICD is a common treatment for ARVD. The ICD is a device placed just under the skin and is connected to wire leads that are threaded through the vein to the heart. An ICD constantly monitors the heart rhythm. When it detects a very fast, abnormal heart rhythm, it delivers a shock to the heart muscle, causing the heart to return to a normal rhythm. However, since ARVD is a progressive disease, the arrhythmias will not be permanently cured as a result of the implantation of the device.

Heart Transplant

A heart transplant is the most extreme treatment for ARVD and is rarely needed. It is done only as a last resort when other treatments are not working.

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Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is a rare, inherited condition in which your heart muscle becomes thick, making it harder for blood to leave the heart and forcing the heart to work harder to pump blood. Most often, it is the septum, the muscular wall that separates the right and left sides of the heart, which becomes thickened. This causes a narrowing that can block or lessen blood flow from the left ventricle to the aorta. Other areas of the heart muscle may also become thickened.

HCM may also cause stiffness in the left ventricle that can make it difficult for the ventricle to relax as it should, so that it cannot fill with blood. This results in less blood being pumped to the organs and muscles. HCM may also lead to leaking of the mitral valve or to problems with arrhythmias. Other conditions associated with HCM include sudden cardiac arrest and sudden death.

Symptoms

  • Chest pain
  • Dizziness
  • Fainting
  • Heart failure
  • High blood pressure
  • Light-headedness
  • Palpitations
  • Shortness of breath

Hypertrophic cardiomyopathy can be caused by an abnormality in a gene that has to do with the heart muscle's characteristics. There are numerous genes that can cause it. However, some people who have the gene may never develop the disease.

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Diagnosing Hypertrophic Cardiomyopathy

In diagnosing hypertrophic cardiomyopathy, your doctor will ask you questions about your symptoms and family history, and will listen to your heart and lungs. Your doctor will likely also order one or more tests, such as:

Electrocardiogram

A painless, noninvasive test in which patches with electrodes are attached to your skin to measure electrical impulses produced by your heart. These impulses are recorded as waves displayed on a monitor or printed out on graph paper.

Stress Test

During a stress test, you exercise to make your heart work hard and beat fast while tests are done to look for abnormal changes to your heart rate or blood pressure, symptoms such as shortness of breath, or abnormal changes to your heart's electrical activity. Sometimes, a stress test is given using a radioactive dye, sound waves, or other imaging devices to take pictures of your heart when it's working hard and when it is resting.

Chest X-ray

Chest X-rays may be used to show the heart's size and position.

Coronary Catheterization

To see the blood flowing to your heart, your doctor may perform a coronary catheterization. This involves injecting a dye into your arteries in what is called an angiogram. The dye is delivered through a long, thin, flexible tube called a catheter that is threaded through a leg artery into the coronary arteries. This is called catheterization. The dye outlines areas of blockages on x-ray images.

Magnetic Resonance Imaging (MRI)

An MRI scans the body using magnetic fields to create computer images of the body's soft tissues.

Blood Tests

Various blood tests can be used to detect specific genetic mutations associated with HCM.

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Treatment for Hypertrophic Cardiomyopathy

Treatment for hypertrophic cardiomyopathy depends on the condition of your heart and the severity of your symptoms. The idea is to decrease stress on the heart and relieve symptoms, particularly problems with mitral valve regurgitation and arrhythmias.

Lifestyle Changes

Certain lifestyle changes are recommended for managing HCM. These may include:

  • Fluid and sodium restrictions: may be needed if heart failure symptoms are present.
  • Exercise: most patients with hypertrophic cardiomyopathy are able to participate in noncompetitive aerobic activities. (Strenuous exercise should be avoided.)

Medications

  • Beta-blockers and calcium channel blockers may be prescribed to relax the heart muscle, allowing it to fill more efficiently and pump more effectively.
  • Other medications may be prescribed as needed to control your heart rate or decrease the occurrence of arrhythmias.

Septal Myectomy

During a septal myectomy, your surgeon removes a small amount of the thickened septal wall to widen the path the blood takes from the left ventricle to the aorta. Myectomy is considered when medications are not effective in treating HCM. This can eliminate problems with mitral valve regurgitation.

Ethanol Ablation

An ethanol ablation procedure is used for patients who are not candidates for septal myectomy. The small coronary artery that supplies blood flow to the upper part of the septum is located during cardiac catheterization. A balloon-tipped catheter is inserted into the artery and inflated. Then, a contrast agent is injected to locate the thickened septal wall that narrows the passageway from the left ventricle to the aorta. Next, a small amount of pure alcohol is injected through the catheter. The alcohol kills the cells, causing the septum to shrink back to a more normal size over time, opening the passage for blood flow.

Implantable Cardioverter Defibrillator (ICD)

ICDs are reserved for patients with HCM who are at risk for life-threatening arrhythmias or sudden cardiac death. The ICD is a device placed just under the skin and is connected to wire leads that are threaded through the vein to the heart. An ICD constantly monitors the heart rhythm. When it detects a very fast, abnormal heart rhythm, it delivers a shock to the heart muscle, causing the heart to return to a normal rhythm.

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Contact Information

Cardiovascular Medicine
Division of the CardioVascular Institute
Beth Israel Deaconess Medical Center
330 Brookline Avenue
Boston, MA 02215
617-667-8800

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