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Familial Cardiomyopathy Care

If you or someone in your immediate family is diagnosed with cardiomyopathy, you should seek care from medical experts who specialize in familial (inherited) heart disease.

Cardiomyopathy often runs in families, meaning you or your loved ones could have it — and not know it. Even if you don’t have symptoms, you may be at risk for complications such as arrhythmia (irregular heartbeat), heart failure and sudden cardiac death.

Fortunately, VCU Health offers genetic risk assessment and testing that can determine whether you and your first-degree relatives — including your parents, siblings or children — may have a gene mutation that can lead to high risk for cardiomyopathy.

We also offer complete care for all types of familial cardiomyopathy. We’ll keep an eye on your heart health, treat any symptoms that appear and help you prevent serious complications.

What is Familial Cardiomyopathy?

Woman drawing a diagram on a board and female doctor watching with her hand on her chin

Cardiomyopathy is a disease that causes your heart muscle to stiffen or thicken. In some cases, healthy heart muscle is replaced with scar tissue.

These problems can make it harder for your heart to pump blood, or cause your heart to beat too quickly or too slowly.

There are several different types of cardiomyopathy. Some are caused by another medical condition (such as an infection) or by certain behaviors (such as drug or alcohol use). Other types are caused by gene mutations that run in families. These types are known as familial cardiomyopathy or inherited cardiomyopathy.

Types of Familial Cardiomyopathy

There are four main types of familial cardiomyopathy. Each affects different areas in the heart:

  • Arrhythmogenic cardiomyopathy. Abnormal heart muscle cells die and are replaced with scar tissue and fatty tissue. This prevents your heart’s electrical signals from working properly, which causes arrhythmia.
  • Dilated cardiomyopathy. Your heart’s main pumping chamber (left ventricle) becomes enlarged. This makes it harder for your heart to pump blood to the rest of your body.
  • Hypertrophic cardiomyopathy. The walls that make up your heart’s left ventricle become unusually thick and stiff. This makes it harder for your heart to pump blood.
  • Noncompaction cardiomyopathy. The walls of your left ventricle are thick and spongy instead of smooth and firm. Because these abnormal walls are weak, your heart can’t pump blood effectively. And because blood clots can form in these spongy areas, you have a higher risk of stroke.

Cardiomyopathy Symptoms

Many people with cardiomyopathy don’t have symptoms until their disease reaches an advanced stage. If you do have symptoms, they may include:

  • Chest pain or discomfort
  • Dizziness or lightheadedness
  • Fainting
  • Racing, pounding or fluttering heartbeat
  • Shortness of breath, even after light activities or while at rest
  • Swelling in your legs, ankles or feet
  • Unusual fatigue

If you’ve already been diagnosed with familial cardiomyopathy, these symptoms may be a sign that your condition has gotten worse (or your current treatments no longer work).

If you’ve never been diagnosed with heart disease and are experiencing any of these symptoms for the first time, make an appointment with your primary care provider or a cardiologist. They’ll help determine whether your symptoms are caused by cardiomyopathy — and whether it’s potentially an inherited type for which your family members should also get tested.

Familial Cardiomyopathy Testing and Treatment

We can screen you for inherited cardiomyopathy and, if necessary, provide the treatments you need to manage your condition.

Genetic Testing

You should seek genetic testing if you have a personal or family history of cardiomyopathy. You should also consider genetic testing if any close family members developed heart failure or arrhythmia at an early age, or passed away unexpectedly before age 40. Those family members may have had cardiomyopathy without knowing it.

VCU Health offers advanced genetic testing and one-on-one counseling and risk assessment. Our goals include:

  • Considering options for genetic testing to determine whether you may carry a gene mutation that is associated with risk for cardiomyopathy
  • Helping you understand your diagnosis, if you’re found to have a gene mutation
  • Helping you understand your risk for developing symptoms
  • Helping you understand your risk of passing the abnormal gene to your children

We can also coordinate testing and counseling for all of your immediate family members — no matter where they live in the United States. Thanks to telehealth technology, we routinely help patients and their loved ones who live outside of Virginia.

Diagnostic Tests

If you have a gene mutation that causes cardiomyopathy, we’ll have you undergo one or more additional tests to evaluate your current heart health. These may include:

  • Cardiac MRI scan – An imaging procedure that uses magnetic fields instead of radiation to take detailed pictures of your heart.
  • Echocardiogram – Uses sound waves to create pictures of your heart.
  • Electrocardiogram (EKG) – Records the heart’s electrical signals to see if your heart beats normally.
  • Exercise stress test – A type of EKG that shows how well your heart works during physical activity.
  • Holter monitor – A device worn at home records your heart’s activity for 24-48 hours, as you go about your daily activities.

Once we’ve determined whether your heart shows signs of cardiomyopathy, and possibly confirmed the type of cardiomyopathy you have, we’ll recommend a customized treatment plan.

Cardiomyopathy Treatments

Some people with familial cardiomyopathy don’t need any treatment beyond ongoing monitoring. However, if you have symptoms — or develop other heart problems commonly associated with cardiomyopathy — VCU Health offers any treatment you might need. These include:

  • Medication. You may need medicine to slow your heart rate, improve blood flow, prevent blood clots or help the heart pump blood more effectively.
  • Alcohol septal ablation. Injections of alcohol help thin out thickened heart muscle.
  • Cardiac ablation. This minimally invasive procedure uses laser heat to damage small sections of heart tissue. The resulting scar tissue can no longer transmit the abnormal electrical signals that cause arrhythmia.
  • Implantable devices. Pacemakers are used to treat a heart rate that’s too slow. Implantable cardioverter defibrillators (ICDs) are used to control a heart rate that’s too fast, and can help prevent sudden cardiac arrest.
  • Septal myectomy. Surgery to remove some of the thickened muscle that separates the top two chambers of the heart (septum).

If you have a child that needs monitoring or treatment for familial cardiomyopathy, we can help them, too. Pediatric heart specialists at Children’s Hospital of Richmond at VCU provide expert care for children with cardiomyopathy.

Our Providers

Schedule an appointment

To schedule an appointment with a familial cardiomyopathy specialist at Pauley Heart Center, please call (804) 828-4571 (press option 3) or request an appointment onlineProviders can also call this number to refer their patient for further evaluation or potential treatment.