Arrhythmogenic right ventricular cardiomyopathy


What causes arrhythmogenic right ventricular cardiomyopathy?

Gene mutations have been found in about 60 percent of people with arrhythmogenic right ventricular cardiomyopathy (ARVC). The most common genes known to be associated with ARVC are: DSC2, DSG2, DSP, JUP, PKP2, and TMEM43. Genes that are less commonly associated with ARVC include: CTNNA3, DES, LMNA, PLN, RYR2, TGFB3, and TTN. Many of these genes are known as desmosomal genes because they provide instructions for making components of cell structures called desmosomes. Desmosomes attach heart muscle cells to one another, providing strength to the myocardium and playing a role in signaling between neighboring cells.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • • DATE UPDATED: 2019-11-13


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: Accessed March 29, 2019.

Genetic Home Reference. Arrhythmogenic right ventricular cardiomyopathy. Accessed 29MAR2019.

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