Article
Clinical and genetic characterization of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy caused by a plakophilin-2 splice mutation.
Cardiology - 1 Jan 2012
van der Smagt Jasper J, van der Zwaag Paul A, van Tintelen J Peter, Cox Moniek G P J, Wilde Arthur A M, van Langen Irene M, Ummels Amber, Hennekam F A M, Dooijes Dennis, Gerbens Frans, Bikker Hennie, Hauer Richard N W, Doevendans Pieter A
Abstract excerpt
OBJECTIVES: Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is characterized by fibrofatty replacement of cardiomyocytes. In around 50% of index patients, a genetic predisposition is demonstrated. The purpose of this study was to examine a plakophilin-2 (PKP2) splice site mutation, c.2489+4A>C, identified in 4 separately ascertained Dutch ARVD/C families. METHODS: Genealogical studies and...
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