Arrhythmogenic right ventricular cardiomyopathy/Dysplasia (ARVC/D)

Authors

  • V. Ramesh Iyer MD,

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    • V. Ramesh Iyer is Associate Professor of Clinical Pediatrics at the Perelman School of Medicine at the University of Pennsylvania. His clinical and research interests have focused on the management of pediatric arrhythmias and calcium signaling in cardiomyocytes, respectively.
  • Alvin J. Chin MD

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    • Alvin Chin is Professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania and Senior Cardiologist at the Children's Hospital of Philadelphia. His clinical and research interests have centered on the management of single ventricle disorders and the developmental biology of the cardiovascular system, respectively.

Correspondence to: Alvin J. Chin, M.D., Division of Cardiology, Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104. E-mail: chinalvi@mail.med.upenn.edu

Abstract

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. © 2013 Wiley Periodicals, Inc.

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