Clinical Impact of Genetics in Arrhythmogenic Cardiomyopathy

In the past decade, elucidation of the genetic etiology of arrhythmogenic cardiomyopathy (AC) has shed light on the cellular and molecular mechanisms underlying the disease. In addition to its diagnostic utility, genetic testing has provided a more stringent benchmark for analysis of heterogeneous disease expression. Genotype-phenotype correlation has built on earlier familial studies to redefine the natural history of the disease and its pleiomorphic manifestations. This review provides an up-to-date summary of the genetics of AC as a prelude to discussion of its impact on clinical diagnosis, prognostication, and therapy. © 2011.