Arrhythmogenic cardiomyopathy (ACM) is a primary myocardial disorder characterized by the early appearance of ventricular arrhythmias often out of proportion to the degree of ventricular remodeling and dysfunction. ACM typically presents in adolescence or early adulthood. It accounts for 10% of sudden cardiac deaths in individuals under the age of 18 years. Although there has been significant progress in recognizing the genetic determinants of ACM, how specific gene mutations cause the disease remains poorly understood. Here, we review insights gained from studying the human disease as well as and experimental models. These observations have advanced our understanding of the molecular mechanisms underlying the pathogenesis of ACM and may lead to development of new mechanism-based therapies.
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| http://dx.doi.org/10.1016/j.ppedcard.2014.10.001 | DOI Listing |
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