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Arrhythmogenic Right Ventricular Dysplasia (ARVD)

What is arrhythmogenic right ventricular dysplasia?

Arrhythmogenic right ventricular dysplasia (ARVD) is one type of cardiomyopathy (disease of the heart muscle).  Arrhythmogenic means causing an arrhythmia (an unusual heart beat rhythm), the right ventricle is the part of the heart that is affected, and dysplasia means there is an abnormality of the structure.  ARVD is a progressive heart condition in which the muscle of the right ventricle is replaced by fat and fibrosis, which causes abnormal heart rhythms.

Who is affected by ARVD?

ARVD affects about 1 in 5000 people of all ages, race, and sex, although males seem to be affected more.  It is an important cause of sudden cardiac death among young athletes in their 20s and 30s, and accounts for 1/5 of sudden death in people under age 35.

Genetics and ARVD

It has been shown that about 50% of individuals affected with ARVD have a family history of this condition. Most of these people inherited ARVD in an autosomal dominant manner.  This means that an affected parent has a 50% or 1 in 2 chance of passing the gene for ARVD to each of his or her children. For this reason, it is important for all first-degree relatives (siblings, children and parents) of a person diagnosed with ARVD to be evaluated to check for signs of this condition.

Currently there are at least 2 genes associated with ARVD that have been identified, and 6 other possible loci (general location of a gene in the entire map of human genome) which have been studied in large families who are affected by this condition.

What are the symptoms of ARVD?

The severity and presence of these symptoms varies from person to person, even within the same family.  ARVD causes arrhythmias in the right ventricle.  This can sometimes cause palpitations (speeding up or slowing down of your heart), fainting, or sudden cardiac death.  Other times these arrhythmias do not cause any symptoms at all.  Also, some healthy individuals can feel palpitations or have fainting without being affected by ARVD, so it is important to be evaluated properly by a cardiologist before making a diagnosis. 

How is ARVD diagnosed?

A careful assessment of a family history, a thorough physical exam, and several heart tests can be used to make the diagnosis or ARVD. There are also certain diagnostic criteria that must be met, based on the results of several tests.

Some of the tests used to diagnose ARVD include:

-        Electrocardiogram (ECG):  This test is performed by placing electrodes on the body and measuring the electrical signal through the heart as it beats.  By reviewing the pattern of this electrical signal, the doctor can determine if the heart is beating normally.

- Signal Averaged Electrocardiogram (SAECG): This test is similar to a regular ECG, but measures the electrical signal through the heart for 10-30 minutes (vs. 6 seconds on a regular ECG).

-  Echocardiogram (ECHO):  This test is an ultrasound of the heart.  It is performed by placing a wand on the chest that transmits sound waves; these waves create a picture of the heart.  This picture can be used to determine whether or not the heart is enlarged.

-    Blood tests:  Some blood tests can be used to tell how the heart is functioning or if there is muscle damage.  These tests alone cannot be used to diagnose cardiomyopathy, but they may be used in conjunction with the tests listed above.

Additional testing may be necessary if the results of the above tests warrant closer investigation.  Additional testing options include:

-    Exercise Treadmill Test:  records an ECG during the stress of exercise. It can help see how well the heart pumps when it is made to work harder, or bring on an arrhythmia that may not occur at rest

-    Magnetic Resonance Imagining (MRI) or Computerized Tomography (CT):  Provides a more detailed picture of the heart than an ECHO.

-    Holter monitor:  Measures heart rhythm over a 24-hour period.

-    Right ventriculography: produces images of the right ventricle of the heart by injecting a tiny amount of radioactive substance into a vein in the arm. It shows the size and shape of the ventricles and measures how much blood the heart is pumping.

Is there any treatment for ARVD?

ARVD is treated based on the individual’s symptoms and test results.  Management may include anti-arrhythmic drug therapy (i.e. beta-blockers, amiodarone), catheter ablation (non-surgical technique that destroys parts of the abnormal electrical pathway in the heart that is causing arrhythmia), and/or placement of an implantable cardiac defibrillator (ICD).  Placement of an ICD is recommended for patients who are considered to be at high risk for sudden cardiac death. It is sometimes recommended that affected individuals avo id strenuous activities, as this can cause the heart to have to work harder and lead to sudden cardiac death.  A heart transplant is optional if symptoms are severe and no other form of treatment helps to lessen the symptoms. . Individuals with ARVD should establish a personalized management plan with his or her cardiologist that involves regular checkups and maintenance. Currently, there is no known cure for ARVD.

Genetic testing options

Of the genes that are currently known to be associated with ARVD, only one (RYR2) is available for clinical testing at this time. For more information regarding current clinical testing options, contact your local doctor to find out where genetic counseling services are available in your area. 

Genetic testing is currently available as part of a research protocol through the University of Colorado Denver Cardiovascular Institute. For more information, please go to our Familial Cardiomyopathy Study section.