Arrhythmogenic right ventricular cardiomyopathy

Causes

What causes arrhythmogenic right ventricular cardiomyopathy?

Gene mutations have been found in about 60 percent of people with ARVC. The common genetic causes known to be associated with ARVC are: DSC2, DSG2, DSP, JUP, PKP2, and TMEM43. Less common genetic causes 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 • https://www.thinkgenetic.com/diseases/arrhythmogenic-right-ventricular-cardiomyopathy-109924/causes/66383 • DATE UPDATED: 2019-06-18

References

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