Clinical Features of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Associated With Mutations in Plakophilin-2 | Zendy

Darshan Dalal | Zendy; Lorraine H. Molin | Zendy; Jonathan Piccini | Zendy; Crystal Tichnell | Zendy; Cynthia A. James | Zendy; Chandra Bomma | Zendy; Kalpana Prakasa | Zendy; Jeffrey A. Towbin | Zendy; Gregory M. Marcus | Zendy; Philip J. Spevak | Zendy; David A. Bluemke | Zendy; Theodore P. Abraham | Zendy; Stuart D. Russell | Zendy; Hugh Calkins | Zendy; Daniel P. Judge | Zendy

Open Access

Clinical Features of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Associated With Mutations in Plakophilin-2

Author(s) -

Darshan Dalal,

Lorraine H. Molin,

Jonathan Piccini,

Crystal Tichnell,

Cynthia A. James,

Chandra Bomma,

Kalpana Prakasa,

Jeffrey A. Towbin,

Gregory M. Marcus,

Philip J. Spevak,

David A. Bluemke,

Theodore P. Abraham,

Stuart D. Russell,

Hugh Calkins,

Daniel P. Judge

Publication year - 2006

Publication title -

circulation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 7.795

H-Index - 607

eISSN - 1524-4539

pISSN - 0009-7322

DOI - 10.1161/circulationaha.105.568642

Subject(s) - medicine , arrhythmogenic right ventricular dysplasia , cardiomyopathy , cardiology , dysplasia , mutation , heart failure , genetics , gene , biology

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.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research