Arrhythmogenic Right Ventricular Dysplasia

A body outline showing the location of the heart, with a close-up of the right ventricle.

Arrhythmogenic right ventricular dysplasia is a heart problem in which muscle tissue in the lower right chamber (ventricle) of the heart is replaced with fat and scar tissue. Over time, this condition can cause the right ventricle to weaken and to not pump blood well. Abnormal heart rhythms (arrhythmias) can also develop. Arrhythmias can be severe and life-threatening. In some cases, sudden death can occur. Treatment can help prevent these arrhythmias.

What are the causes?

This condition is passed from parent to child (is inherited). It is caused by abnormal genes (gene mutations) that affect the structures that bind the heart muscles together, causing problems with the electrical signals in the heart.

What increases the risk?

You are more likely to develop this condition if:

  • You have a parent or sibling who was diagnosed with the disease.

  • You have a close relative who had a sudden, unexplained death before the age of 40.

  • You are male.

  • You are between the ages of 12 to 50 years.

What are the signs or symptoms?

This condition usually develops over a long period of time without causing problems. Children rarely have symptoms. The most common early symptoms are:

  • An unexpected, life-threatening arrhythmia in a young person that happens during exercise.

  • Rapid heartbeat or irregular, skipped heartbeats (palpitations).

  • Dizziness.

  • Fainting.

  • Chest pain.

  • Shortness of breath.

Symptoms in the later stage of the disease may include:

  • Increased difficulty breathing.

  • Fatigue.

  • Swelling in the legs, feet, or ankles.

  • Difficulty doing normal activities such as bathing and dressing.

How is this diagnosed?

This condition is diagnosed based on:

  • Family history. Your health care provider may ask if you have a family history of the condition, or if a close family member has had an unexplained early death.

  • Your symptoms.

  • A physical exam.

  • Tests, including:

    • Electrocardiogram (ECG). This test records the electrical activity of the heart and can help to detect arrhythmias.

      • You may have an ECG done while exercising (stress test).

      • You may also have an ECG done over a period of 24 hours while wearing a portable ECG machine (Holter monitor).

    • Echocardiogram. This test uses sound waves to create an image of the heart. This may show an abnormal heart structure.

    • An MRI of the heart.

    • CT coronary angiogram.

    • Genetic testing to check for the gene mutations that are linked to the disease.

How is this treated?

There is no cure for this condition. However, treatment can prevent arrhythmias and heart failure. Treatment may include:

  • An implantable cardioverter-defibrillator (ICD). This device is inserted under the skin in your chest to monitor your heartbeat. When the ICD senses an irregular heartbeat, it may send a shock to return the heartbeat to normal.

  • Medicines to prevent arrhythmias.

  • Medicines to open up blood vessels, reduce fluid in your body, and strengthen your heart’s ability to pump blood.

  • An electrophysiology study. This can help locate areas of heart tissue that are causing the problems with the electrical signals in your heart.

    • A long, thin tube (catheter) is inserted into a vein and moved to your heart to evaluate your heart’s electrical activity

    • In some cases, the heart tissue that is causing problems may be burned with a low-level energy source that is delivered through the catheter. This is called ablation. This may help your heart keep a normal rhythm.

  • Avoiding activities that can trigger arrhythmias, such as competitive sports or other activities that take a lot of effort.

  • Heart transplant.

Follow these instructions at home:

Eating and drinking

  • Follow instructions from your health care provider about eating or drinking restrictions.

  • Do not drink alcohol if your health care provider tells you not to drink. If you drink alcohol:

    • Limit how much you have to:

      • 0–1 drink a day for women.

      • 0–2 drinks a day for men.

    • Know how much alcohol is in your drink. In the U.S., one drink equals one 12 oz bottle of beer (355 mL), one 5 oz glass of wine (148 mL), or one 1½ oz glass of hard liquor (44 mL).

  • Do not use stimulants or drugs.

General instructions

  • Take over-the-counter and prescription medicines only as told by your health care provider. Do not take any other medicines, including over-the-counter medicines, unless you first check with your health care provider.

  • Do not play competitive sports or do exercise that requires a lot of energy. Ask your health care provider what activities are safe for you.

  • Do not use any products that contain nicotine or tobacco. These products include cigarettes, chewing tobacco, and vaping devices, such as e-cigarettes. If you need help quitting, ask your health care provider.

  • Wear a medical alert bracelet or neck chain so that others know that you have arrhythmogenic right ventricular dysplasia. If you have an implanted defibrillator, make a note of this device on your medical alert jewelry. This will help in case of emergency.

  • Keep all follow-up visits as this is a life threatening condition.

Contact a health care provider if:

  • You feel fatigued.

  • You have swelling in your legs, feet, or ankles.

  • Your symptoms get worse.

  • You develop new symptoms, such as new palpitations or shortness of breath.

  • You feel depressed.

  • You have had a shock from your ICD or WCD.

Get help right away if:

  • You have palpitations or a fast heartbeat.

  • You have chest pain.

  • You faint.

  • You feel very light-headed.

  • You have trouble breathing.

These symptoms may be an emergency. Get help right away. Call 911.

  • Do not wait to see if the symptoms will go away.

  • Do not drive yourself to the hospital.

Summary

  • Arrhythmogenic right ventricular dysplasia is a heart problem in which muscle tissue in the lower right chamber (ventricle) of the heart is replaced with fat and scar tissue.

  • Abnormal heart rhythms (arrhythmias) can develop in this condition. Arrhythmias can be severe and life-threatening.

  • If you have a family history of the condition or an unexplained death in your family, talk with your health care provider about screening for the condition.

  • An implantable cardioverter-defibrillator placed under the skin in the chest or abdomen can treat life-threatening arrhythmias.

This information is not intended to replace advice given to you by your health care provider. Make sure you discuss any questions you have with your health care provider.

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