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Genetic and Rare Diseases Information Center (GARD)

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Arrhythmogenic right ventricular dysplasia

Other Names for this Disease
  • Arrhythmogenic right ventricular cardiomyopathy
  • ARVC
  • ARVD
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Your Question

My husband's brother just found out he has ARVC. My husband plans to have genetic testing. If my husband does not carry the gene, are my children still at risk for developing this condition? Also, if you have the gene will it be manifested as ARVC or do you just have the possibility of it developing?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How is arrhythmogenic right ventricular dsyplasia inherited?

The genetic basis of ARVD is complex and not fully understood. There are different ways in which ARVD can be inherited. The most common pattern of inheritance for ARVD is autosomal dominant. This means that a mutation in only one copy of the disease-causing gene is sufficient to cause the condition. An individual with an autosomal dominant condition has a 50% risk to pass the mutation on to each child. Other individuals with ARVD have an autosomal recessive form. This means mutations in both copies of the gene must be present to have a predisposition to ARVD. Parents of an individual with an autosomal recessive condition each carry one mutated copy of the gene and are referred to as carriers. When two carriers of an autosomal recessive condition have children, each child has a 25% risk to inherit mutations and be affected.[5803] Genetic testing can help determine which pattern of inheritance an affected individual has.
Last updated: 1/30/2013

If my husband does not carry the gene, are my children still at risk for developing this condition?

If your husband is not found to carry the disease-causing mutation in his family, then your children are not at an increased risk for developing this condition.
Last updated: 1/30/2013

If you have a genetic mutation for arrhythmogenic right ventricular dsyplasia, does this mean you will definitely develop the condition?

Not everyone who inherits a gene change associated with ARVD will develop the condition. This is called reduced penetrance. Additionally, there is variation among family members in the severity of the disease and the age that ARVD symptoms begin. Researchers are trying to discover what other genetic and environmental factors predict which people with a genetic change go on to develop ARVD and which do not.[5803]
Last updated: 1/30/2013