Arrhythmogenic right ventricular cardiomyopathy/Dysplasia (ARVC/D) | Zendy

Iyer V. Ramesh | Zendy; Chin Alvin J. | Zendy

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Arrhythmogenic right ventricular cardiomyopathy/Dysplasia (ARVC/D)

Author(s) -

Iyer V. Ramesh,

Chin Alvin J.

Publication year - 2013

Publication title -

american journal of medical genetics part c: seminars in medical genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.419

H-Index - 101

eISSN - 1552-4876

pISSN - 1552-4868

DOI - 10.1002/ajmg.c.31368

Subject(s) - cardiomyopathy , arrhythmogenic right ventricular dysplasia , medicine , cardiology , presentation (obstetrics) , pathogenesis , disease , dysplasia , heart failure , radiology

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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