Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy.

doi:10.1161/CIRCGENETICS.113.000288

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Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy.

Circulation. Cardiovascular genetics - 1 Dec 2013

Rigato Ilaria, Bauce Barbara, Rampazzo Alessandra, Zorzi Alessandro, Pilichou Kalliopi, Mazzotti Elisa, Migliore Federico, Marra Martina Perazzolo, Lorenzon Alessandra, De Bortoli Marzia, Calore Martina, Nava Andrea, Daliento Luciano, Gregori Dario, Iliceto Sabino, Thiene Gaetano, Basso Cristina, Corrado Domenico

Abstract excerpt

BACKGROUND: Mutations in genes encoding for desmosomal proteins are the most common cause of arrhythmogenic right ventricular cardiomyopathy (ARVC). We assessed the value of genotype for prediction of lifetime major arrhythmic events and sudden cardiac death (SCD) in desmosomal gene-related ARVC. METHODS AND RESULTS: The overall study population included 134 desmosomal gene mutation carriers (68 men; median age...

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PMID: 24070718
DOI: 10.1161/CIRCGENETICS.113.000288

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