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Fabritz, Larissa; Fortmüller, Lisa; Yu, Ting Y.; Paul, Matthias; Kirchhof, Paulus
Progress in biophysics and molecular biology, 10/2012, Volume: 110, Issue: 2-3Journal Article
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy and a leading cause of sudden cardiac death in a young population. ARVC is especially common in young athletes. Mutations in different desmosomal genes have been identified causing dysfunctional cell–cell contacts. Reduced myocardial expression of plakoglobin in cell–cell contact complexes appears to associate with disease manifestation in patients harbouring mutations within other cell–cell contact genes. Experimental data suggest that preload reduction may be a simple and effective intervention to prevent disease progression and ventricular arrhythmias in ARVC. This review discusses the potential effects of this innovative approach and describes the design of the first controlled trial of preload-reducing therapy in patients with ARVC.
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