Understanding Arrhythmogenic Right Ventricular Dysplasia (ARVD)

Arrhythmogenic right ventricular dysplasia (ARVD) or cardiomyopathy (ARVC) is a disease of the heart muscle. ARVD is a rare genetic disease. It usually starts between ages 10 and 50. It replaces normal heart muscle with fatty fibrous tissue, mainly in the right ventricle. This interrupts normal electrical signals in the heart. It can cause irregular and possibly dangerous heart rhythms (arrhythmias). The heart also becomes weaker over time. This can lead to heart failure. The disease can be very mild in some people, and severe in others.

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What happens in ARVD?

ARVD most often begins in a small part of the right ventricle. Over time, the disease slowly affects more of the right ventricle. Sometimes the left ventricle is affected too. This can lead to abnormal heart rhythms. It can sometimes cause sudden death. Over time, the heart can’t pump as much blood forward as it normally would. Blood backs up in the circulatory system. This causes fluid to build up in the legs and lungs. This is called congestive heart failure. This can lead to many symptoms, including shortness of breath and fatigue.

What causes ARVD?

ARVD results from an abnormal gene. The gene causes normal heart tissue to be replaced with fatty or fibrous tissue. How this happens is not yet clear. Most cases of ARVD are from an abnormal gene from only one parent. But even if you have an abnormal gene, you may not have any major symptoms from ARVD. Researchers are working to understand what makes the disease more or less severe in some people.

If someone in your family has ARVD, you may be able to use genetic testing to see if you have the abnormal gene. Anyone with the abnormal gene should see his or her healthcare provider for regular checkups.

What are the symptoms of ARVD?

Some people with ARVD show no symptoms. And others may have more severe symptoms. Symptoms of ARVD tend to get worse over time as the disease affects more of the heart. These may include:

  • Fainting

  • Heart palpitations with unpleasant awareness of the heartbeat

  • Dizziness

  • Shortness of breath with exertion

  • Shortness of breath when lying down

  • Chest pain

  • Fatigue

  • Swelling in the legs and other areas

  • Persistent cough

  • Sudden death because of an abnormal heart rhythm

Heart palpitations and fainting are common early dangerous symptoms. Sudden death is also sometimes the first symptom of ARVD. The other symptoms associated with congestive heart failure tend to occur over time.

How is ARVD diagnosed?

ARVD can be hard to diagnose. Your healthcare provider will ask about your past health, family health history, and symptoms. He or she will give you a physical exam. You will likely need to see a cardiologist. You may need tests such as:

  • Electrocardiogram (ECG), to check the heart rhythm

  • Continuous portable ECG monitoring, to check heart rhythms over time, such as with a holter or event monitor

  • Signal-averaged ECG, to check how likely you are to have irregular heart rhythms

  • Echocardiogram, to look at blood flow in the heart and the heart’s motion

  • Exercise ECG testing, to check the heart rhythm during exercise

  • Cardiac MRI, to look at the heart anatomy and heart wall motion

  • Angiography with catheterization, to look at the vessels and chambers in the heart

  • Heart biopsy, to look at the heart in more detail

  • Electrophysiology study, to look at your heart's electrical system and to assess the risk of dangerous heart rhythm

Genetic testing can confirm the diagnosis, but usually this is not needed. It can be helpful in cases in which the diagnosis is not clear. It can also be helpful when screening relatives when the genetic defect has already been identified.