Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2 by Dalal Darshan, Molin Lorraine H, Piccini Jonathan, Tichnell Crystal, James Cynthia, Bomma Chandra, Prakasa Kalpana, Towbin Jeffrey A, Marcus Frank I, Spevak Philip J, Bluemke David A, Abraham Theodore, Russell Stuart D, Calkins Hugh, Judge Daniel P in Circulation (2006). PubMed

Abstract

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiomyopathy characterized by right ventricular dysfunction and ventricular arrhythmias. A recent study reported mutations in PKP2, encoding the desmosomal protein plakophilin-2, associated with ARVD/C. The purpose of our study was to validate the frequency of PKP2 mutations in another large series of ARVD/C patients and to examine the phenotypic characteristics associated with PKP2 mutations.

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