Arrhythmogenic right ventricular cardiomyopathy
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 the disease have an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Each child of an individual with autosomal dominant ARVC has a 50% chance of inheriting the pathogenic variant.
Less frequently, ARVC is inherited in autosomal recessive pattern of inheritance, which means both copies of a gene 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 mutated gene, but they typically do not show signs and symptoms of the condition.
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.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/arrhythmogenic-right-ventricular-cardiomyopathy-109924/inheritance/66387 • DATE UPDATED: 2019-11-15
Accessed March 29, 2019: https://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy#inheritance
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.