Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Cardiomyopathy or Dysplasia (ARVC or ARVD) is an inherited heart disorder that is characterized by the gradual replacement of the right heart muscle with fatty tissue. Some people with ARVC/D have problems on the left side of the heart so the condition is also referred to as Arrhythmogenic Cardiomyopathy (ACM).  The most feared consequences arising from these structural changes are unstable heart rhythms and sudden cardiac death. ARVC affects approximately 1 in 5000 people in the United States, with men being approximately three times more commonly affected than woman. ARVC is caused by mutations in genes that make up the attachment proteins between heart cells (desmosomes).

Symptoms of ARVC include palpitations, shortness of breath, syncope (fainting). People with ARVC also carry a substantially higher risk of sudden death than the general population.

ARVC is diagnosed using the electrocardiogram and echocardiogram/MRI, careful family history, and genetic testing. After a diagnosis is made, people with ARVC may receive treatment, consisting of a mixture of lifestyle adjustment and medications. If a patient is thought to be at high risk of sudden death, a defibrillator is sometimes implanted by an electrophysiologist.  Many people who inherit the genetic mutation will never have any health problems related to ARVC syndrome.  Others have severe, even life-threatening, cardiac manifestations.  ARVC is manageable and sudden death preventable with appropriate medical care.

Genetics

ARVC is a genetic condition and the responsible gene alteration (“mutation”) is detectable in about half of families with current genetic testing.  We expect to identify more genes responsible for this condition as our knowledge in cardiac genetics improves over time.

Most often, ARVC is inherited in an autosomal dominant manner. This means that each child of a parent with ARVC has a 50% chance of inheriting the genetic mutation associated with the condition. The genetic mutation does not skip generations. However, the condition may appear to skip generations because some people carry the genetic mutation for ARVC are unaffected. Even if a person with the genetic mutation does not have symptoms or an abnormal EKG, they can still pass the gene mutation to their children and their children could develop symptoms. The chance of inheriting the gene mutation is the same for men and women.

Genetic testing is useful to establish a diagnosis of ARVC as well as for the benefit of family members.  If the genetic mutation responsible for the ARVC in the family is identified, other family members can undergo genetic testing to determine whether or not they’ve inherited it.  Family members who test positive would be at risk for abnormal heart rhythms associated with the condition; while those who test negative can be reassured that they are not at risk nor are their children, grandchildren, etc.

Family members

Since ARVC syndrome is a genetic condition, the family members of someone who has the condition may be at risk of developing abnormal heart rhythms, fainting, or sudden death. Close relatives (parents, siblings, and children) of someone with ARVC should be evaluated for the condition by consulting a specialist familiar with ARVC.

Electrophysiologists are cardiologists who are experts in abnormal heart rhythms. Appointments can be made with the electrophysiologists at UCSF by calling (415) 353-2873.

For more information on ARVC:

• ARVD at Johns Hopkins University
• Cardiomyopathy Association
• Children’s Cardiomyopathy Foundation

Research

Comprehensive Genetic Arrhythmia Program (CGAP)
Primary Investigator: Melvin Scheinman, MD