Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy

B Gerull, A Heuser, T Wichter, M Paul, CT Basson… - Nature …, 2004 - nature.com
B Gerull, A Heuser, T Wichter, M Paul, CT Basson, DA McDermott, BB Lerman
Nature genetics, 2004nature.com
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with fibrofatty
replacement of cardiac myocytes, ventricular tachyarrhythmias and sudden cardiac death. In
32 of 120 unrelated individuals with ARVC, we identified heterozygous mutations in PKP2,
which encodes plakophilin-2, an essential armadillo-repeat protein of the cardiac
desmosome. In two kindreds with ARVC, disease was incompletely penetrant in most
carriers of PKP2 mutations.
Abstract
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with fibrofatty replacement of cardiac myocytes, ventricular tachyarrhythmias and sudden cardiac death. In 32 of 120 unrelated individuals with ARVC, we identified heterozygous mutations in PKP2, which encodes plakophilin-2, an essential armadillo-repeat protein of the cardiac desmosome. In two kindreds with ARVC, disease was incompletely penetrant in most carriers of PKP2 mutations.
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