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

  • Nat Genet. 2004 Nov;36(11):1162-4. doi: 10.1038/ng1461.
Brenda Gerull  1 ,  Arnd Heuser ,  Thomas Wichter ,  Matthias Paul ,  Craig T Basson ,  Deborah A McDermott ,  Bruce B Lerman ,  Steve M Markowitz ,  Patrick T Ellinor ,  Calum A MacRae ,  Stefan Peters ,  Katja S Grossmann ,  Jörg Drenckhahn ,  Beate Michely ,  Sabine Sasse-Klaassen ,  Walter Birchmeier ,  Rainer Dietz ,  Günter Breithardt ,  Eric Schulze-Bahr ,  Ludwig Thierfelder
Affiliations
  • 1. Max-Delbrüeck Center for Molecular Medicine, D-13092 Berlin-Buch, Germany.
PMID: 15489853 DOI: 10.1038/ng1461
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.