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Review
. 2009 Mar;98(3):141-58.
doi: 10.1007/s00392-009-0751-4. Epub 2009 Feb 9.

Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a not so rare "disease of the desmosome" with multiple clinical presentations

Thomas Herren  1 , Philipp A Gerber, Firat Duru
Affiliations
Free article
Review

Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a not so rare "disease of the desmosome" with multiple clinical presentations

Thomas Herren et al. Clin Res Cardiol. 2009 Mar.
Free article

Abstract

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a rare but increasingly recognized form of a cardiomyopathy, involving primarily the right ventricle. Mutations in seven candidate genes coding for five desmosomal proteins (plakoglobin, plakophilin-2, desmoplakin, desmoglein-2, desmocollin-2), for the cardiac ryanodine receptor-2, for the transforming growth factor beta-3, and for the transmembrane protein 43, respectively, are pathogenetically important. A typical feature of the disease is the replacement of the right ventricular myocardium by fibrofatty infiltrates, leading to electrical instability including ventricular arrhythmias in the early stages, and reduced contractility and heart failure later on. The left ventricle may also be involved. Unfortunately, the disease is often diagnosed post mortem only, especially in young adults dying suddenly during exercise. Since the disease is inherited in up to 50% of cases, the screening of relatives is important. The implantable cardioverter defibrillator is an important therapeutic tool. Nevertheless, the mortality of the disease remains to be 2%-4% per year. Several clinical, electrocardiographic, and imaging parameters were identified as risk predictors for an adverse outcome. In this paper, we describe distinct clinical presentations of ARVC/D, review the genetic background of the disease, and discuss its diagnosis and treatment.

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