Tianhong Xu, Zhao Yang, Matteo Vatta, Alessandra Rampazzo, Giorgia Beffagna, Kalliopi Pilichou, Steven E Scherer, Jeffrey Saffitz, Joshua Kravitz, Wojciech Zareba, Gian Antonio Danieli, Alessandra Lorenzon, Andrea Nava, Barbara Bauce, Gaetano Thiene, Cristina Basso, Hugh Calkins, Kathy Gear, Frank Marcus, Jeffrey A Towbin
OBJECTIVES: The aim of this study was to define the genetic basis of arrhythmogenic right ventricular cardiomyopathy (ARVC). BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy, characterized by right ventricular fibrofatty replacement and arrhythmias, causes sudden death. Autosomal dominant inheritance, reduced penetrance, and 7 desmosome-encoding causative genes are known. The basis of low penetrance is poorly understood. METHODS: Arrhythmogenic right ventricular cardiomyopathy probands and family members were enrolled, blood was obtained, lymphoblastoid cell lines were immortalized, deoxyribonucleic acid was extracted, polymerase chain reaction (PCR) amplification of desmosome-encoding genes was performed, PCR products were sequenced, and diseased tissue samples were studied for intercellular junction protein distribution with confocal immunofluorescence microscopy and antibodies against key proteins...
February 9, 2010: Journal of the American College of Cardiology