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Arrhythmogenic right ventricular cardiomyopathy/Dysplasia (ARVC/D)

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WILEY-BLACKWELL
DOI: 10.1002/ajmg.c.31368

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arrhythmogenic right ventricular cardiomyopathy; ventricular dysplasia; ventricular arrhythmias; desmosome

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Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a progressive genetic cardiomyopathy characterized by progressive fatty and fibrous replacement of ventricular myocardium. The clinical presentation is marked by ventricular arrhythmias, some fatal. The disease has evolved from a primary electrical/electrophysiological disorder (in the 1980s-1990s) to a diagnostic imaging conundrum (in the 2000s) to the current day understanding of a genetic cardiomyopathy caused by defects in cell-cell adhesion proteins or intracellular signaling components. The pathogenesis, clinical presentation, and the genetics of the disease are discussed in this review. (c) 2013 Wiley Periodicals, Inc.

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