Arrhythmogenic Right Ventricular Dysplasia

What is Arrhythmogenic Right Ventricular Dysplasia (ARVD)?

ARVD is a specific type of cardiomyopathy (a disorder/disease of the cardiac muscle). With ARVD, the body progressively replaces the muscle of the right ventricle with fatty and fibrous tissue. It can disrupt the heart's electrical system, and trigger sudden cardiac arrest (SCA). This is also called arrhythmogenic right ventricular cardiomyopathy (ARVC).
Image of ICD patient Chelsey Cornwall

ARVD with ICD to Transplant

I woke up one morning and noticed something really scary. I had an amazing amount of fluid in my legs so that I could not even bend my knee. I knew something was wrong. Several doctors and tests later, my echocardiogram showed that the right ventricle of my heart was in heart failure. Eventually I was diagnosed with ARVD. I have since had implanted defibrillator therapy and a heart transplant.

Chelsey Cornwall

ARVD is caused by a mutation in one of your genes. Mutations in seven genes have been identified in 40%–50% of individuals with ARVD.2 (These genes include DSC2, DSG2, DSP, JUP, PKP2, RYR2 and TMEM43.) ARVD is inherited in an autosomal-dominant manner. This means that if you have ARVD there is a 50% chance of passing on the genetic disorder to each of your children.
Image showing typical histologic features of ARVC/D

The image above shows typical histologic features of ARVC/D. Ongoing myocyte death (black spots) with early fibrosis and adipocytes infiltration (white areas surrounded by pink heart muscle). (Used with permission. Courtesy of Thiene et al. Orphanet Journal of Rare Diseases 2007 2:45 doi:10.1186/1750-1172-2-45.)

ARVD is estimated to affect one in 5000 people. The disease can affect both men and women. Although it is a relatively uncommon cause of sudden cardiac death, it accounts for up to one fifth of sudden cardiac death in people under 35 years of age. ARVD is also associated with sudden cardiac arrest in athletes.

Symptoms of ARVD include:

  • Fainting (syncope)
  • Dizziness
  • Rapid or irregular heartbeat (arrhythmia)
  • Sudden cardiac arrest

If you have symptoms of ARVD, they usually develop by the time you are 20 to 40 years old, although symptoms have been seen at all ages. ARVD is usually diagnosed using tests like an echocardiogram  to look at the structure of your right ventricle and to measure how it is functioning.

You know your body well enough to tell when something doesn't feel right. Since symptoms of ARVD are similar to other heart problems, you should check with your doctor if you have any of these symptoms.

How Is ARVD Treated?

There is no known cure for ARVD. Treatment for ARVD is typically focused on controlling ventricular arrhythmias and managing heart failure. Medications may include ß-blockers and/or anti-arrhythmic drugs, such as sotalol or amiodarone. Some high-risk patients may need surgery to have an implanted defibrillator placed. Some patients may be considered for a heart transplant. 

Patients with ARVD should ask their physician about exercise or participation sports.
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