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.
Arrhythmogenic right ventricular cardiomyopathy/Dysplasia (ARVC/D)
Article first published online: 3 JUL 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Disorders of Left Ventricular Trabeculation/Compaction or Right Ventricular Wall Formation
Volume 163, Issue 3, pages 185–197, August 2013
How to Cite
2013. Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D). Am J Med Genet Part C Semin Med Genet 163C:185–197., .
- Issue published online: 23 JUL 2013
- Article first published online: 3 JUL 2013
- arrhythmogenic right ventricular cardiomyopathy;
- ventricular dysplasia;
- ventricular arrhythmias;
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.