Arrhythmogenic right ventricular cardiomyopathy

How is arrhythmogenic right ventricular cardiomyopathy inherited?

The genetic basis of ARVC is complex and not fully understood. There are different ways in which ARVC can be inherited. The most common pattern of inheritance for ARVC 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 ARVC have an autosomal recessive form. This means mutations in both copies of the gene must be present to have a predisposition to ARVC. 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. Genetic testing can help determine which pattern of inheritance an affected individual has.

Last updated on 05-01-20

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.

Last updated on 05-01-20

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 on 05-01-20

Name: Sudden Arrhythmia Death Syndromes Foundation 4527 S 2300 E, Suite 104
Salt Lake City, UT, 84117-4448 , United States
Phone: 801-272-3022 Url:
Name: Heart Failure Society of America HFSA 6707 Democracy Blvd. Suite 925
Bethesda, MD, 20817, United States
Phone: 301-312-8635 Toll Free: 888-213-4417 Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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