Arrhythmogenic right ventricular cardiomyopathy

Inheritance

How does arrhythmogenic right ventricular cardiomyopathy run in families?

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic condition that runs in families. Most familial cases of ARVC are inherited in an autosomal dominant pattern manner. Autosomal dominant inheritance means one copy of a faulty or altered gene in each cell is enough to cause the ARVC. Each child born of a parent with autosomal dominant ARVC has a 50% chance of inheriting the disease-causing variant.

Less frequently, ARVC is inherited in autosomal recessive pattern of inheritance. In autosomal recessive inheritance both copies of a gene (one from each parent) in each cell must have mutations or variants before symptoms occur. The parents of an individual with an autosomal recessive condition are carriers in that each carry one copy of the disease-causing gene, but carriers aren't typically affected and therefore do not show signs and symptoms of the ARVC.

A genetic counselor or medical geneticist can assist families and individuals better understand the pattern in which ARVC is running in a specific family and who may benefit from closer monitoring and genetic testing. A cardiac focused genetic counselor in your area can be located using this link.

References
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What is a variant or VUS in a arrhythmogenic right ventricular cardiomyopathy gene?

Can you have arrhythmogenic right ventricular cardiomyopathy without having a gene mutation?

My child has arrhythmogenic right ventricular cardiomyopathy. Will others in the family have it?

Can arrhythmogenic right ventricular cardiomyopathy be not genetic?

What is a variant or VUS in a arrhythmogenic right ventricular cardiomyopathy gene?

If an individual has inherited a variant or change in a gene related to arrhythmogenic right ventricular cardiomyopathy (ARVC), it does not necessarily mean that they will have the medical issues related to ARVC. Not every gene change leads to the health conditions associated with ARVC. Some variants are known to be disease-causing or "pathogenic and most often lead to ARVC. Other variants do not cause diseases or are considered "benign". Then there are variants in genes that scientists and healthcare providers do not yet know if they are pathogenic or benign called variants of uncertain significance (VUS).

A genetic counselor or medical geneticist can assist families and individuals better understand the impact of a VUS or if more has learned about the gene variant. A cardiac focused genetic counselor in your area can be located using this link.

References
Can you have arrhythmogenic right ventricular cardiomyopathy without having a gene mutation?

A known gene change or pathogenic variant is found in about 50% of individuals with a diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC) who have genetic testing. Accordingly, many people with ARVC have the condition without having a gene mutation identified in any of the known associated genes. As more information is learned about the gene changes that cause ARVC, additional testing in the future will uncover additional genes associated with the condition.

A genetic counselor or medical geneticist can assist families and individuals better understand genes involved in ARVC, the pattern in which ARVC is running in a specific family, and who may benefit from closer monitoring and genetic testing. A cardiac focused genetic counselor in your area can be located using this link.

References
My child has arrhythmogenic right ventricular cardiomyopathy. Will others in the family have it?

There are two general "types" of ARVC: An autosomal dominant form of ARVC and autosomal recessive forms of ARVC. The autosomal dominant form of ARVC is most common. This means an individual only needs one copy of the non-working AVRC-associated gene in order to express traits of this disorder. It also means that somebody with this disorder has a 50% chance of passing on this disorder to each of his or her children. If a parent or sibling has been diagnosed with arrhythmogenic right ventricular cardiomyopathy, then there is a 50% chance of also having this disorder.

ARVC can also be inherited in an autosomal recessive pattern. This means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Parents that are both carriers have a 25% chance of having an affected child.

A genetic counselor or medical geneticist can assist families and individuals better understand the pattern in which ARVC is running in a specific family and who may benefit from closer monitoring and genetic testing. A cardiac focused genetic counselor in your area can be located using this link.

References
Can arrhythmogenic right ventricular cardiomyopathy be not genetic?

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic condition that runs in families. Although other heart condition may resemble ARVC, there are not any known non-genetic forms of ARVC. Having said this, there are individuals with ARVC who do not yet have a detected gene change. This is because science has not yet found all of the genes associated with ARVC. In these cases, it would still be genetic, but the exact variant would be unknown.

A genetic counselor or medical geneticist can assist families and individuals better understand genes involved in ARVC, the pattern in which ARVC is running in a specific family, and who may benefit from closer monitoring and genetic testing. A cardiac focused genetic counselor in your area can be located using this link.

References
  • McNally E, MacLeod H, Dellefave-Castillo L. Arrhythmogenic Right Ventricular Cardiomyopathy. 2005 Apr 18 [Updated 2017 May 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1131/ Accessed March 29, 2019.
  • Tichnell C, James CA, Murray B, Tandri H, Sears SF, Calkins H. Cardiology patient page. Patient's guide to arrhythmogenic right ventricular dysplasia/cardiomyopathy: past to present. Circulation. 2014 Sep 2;130(10):e89-92. https://www.ahajournals.org/doi/10.1161/CIRCULATIONAHA.113.004845 Accessed 11NOV19

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