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Arrhythmogenic Right Ventricular Dysplasia (ARVD)

What Are the Symptoms of ARVD?

ARVD is usually diagnosed in older children and adults (usually after age 10 and before age 40) and may cause sudden cardiac death in athletes. Symptoms may include:

• Irregular heart rhythms that start in the lower chambers of the heart (ventricular arrhythmias). The most common is ventricular tachycardia (extremely fast heart rate that is dangerous).
• Fluttering in the chest due to abnormal heart rhythms (palpitations).
• Dizziness, lightheadedness, or fainting caused by irregular heart rhythms.
• Sudden cardiac arrest (the heart stopping) and / or death – this can be the first sign of ARVD.
• Heart failure signs and symptoms: shortness of breath with activity, inability to carry out normal activities without fatigue, swelling in the legs, ankles and feet (edema)

What Causes ARVD?

The cause of ARVD in family members has been linked to genetic changes in a certain type of protein. It occurs in about one in 5,000 people. ARVD can occur without a family history, although it often runs in families. A family history of ARVD is present in at least 30 to 50% of cases. When one parent has ARVD, their children have a 50% chance of inheriting the condition. The symptoms and age of onset may be different between family members.

Family members may also get a form of ARVD called Naxos disease. In addition to the symptoms seen with ARVD, these people have a thickening of the skin on the palms of the hands and soles of the feet and thick ‘wool-like’ hair.

How is ARVD Diagnosed?

It can be hard to diagnose ARVD since the changes to the heart muscle may be subtle. ARVD is diagnosed based on medical history, physical exam and tests (electrocardiogram, Holter monitor, electrophysiologic testing, echocardiogram, cardiac MRI and / or cardiac CT scan, and genetic testing).

Cardiac magnetic resonance imaging (MRI) is recommended for the diagnosis of ARVD because the heart muscle of the right ventricle can be seen. This imaging test can detect the abnormal features found in the heart muscle of the right ventricle. If image quality is poor related to an irregular heart rhythm, then a cardiac CT scan can be done. Unlike MRI, a CT scan can be performed if the patient has an implanted device (like a pacemaker, defibrillator).

The diagnosis of ARVD can include all these findings:

• Abnormal function of the lower-right chamber (ventricle) of the heart
• Fatty or fibrous-fatty deposits in the right ventricle heart muscle (myocardium)
• Abnormal electrocardiogram
• Abnormal heart rhythms (supraventricular tachycardia, ventricular tachycardia or ventricular fibrillation, especially with exercise)
• Family history of ARVD

Should Family Members Undergo Testing for ARVD?

A family history of ARVD is present in at least 30 to 50% of cases. It is recommended that all family members (parents, siblings, children, grandchildren, uncle, aunt, nephew, and niece) be evaluated carefully for this form of cardiomyopathy, even if they have no symptoms.

How Is ARVD Treated?

There is no known cure for ARVD. Treatment is usually focused on reducing the patient's abnormal heart rhythms and managing their heart failure signs and symptoms. The primary goal of treatment is preventing continued ventricular arrhythmias and / or the risk of sudden death. Antiarrhythmic drug therapy is the most commonly used therapy. Frequent ventricular arrhythmias that have not been successfully treated with medication may be treated with radiofrequency ablation. Radiofrequency ablation uses heat to eliminate the heart cells that are causing dangerous heart rhythms so the heart can pump more effectively. Patients who are thought to be at risk for sudden death are usually treated with an implantable defibrillator (ICD). If these therapies do not work well to prevent dangerous arrhythmias reliably, a heart transplant may be considered.

Patients with ARVD need to ask their care providers about exercise or participation in sports to ensure that it is a safe activity for them.