Article
A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome.
American journal of medical genetics. Part A - 1 Feb 2013
Murray Brittney, Wagle Rohan, Amat-Alarcon Nuria, Wilkens Alisha, Stephens Paul, Zackai Elaine H, Goldmuntz Elizabeth, Calkins Hugh, Deardorff Matthew A, Judge Daniel P
Abstract excerpt
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a familial form of cardiomyopathy typically caused by mutations in genes that encode an element of the cardiac desmosome. Branchio-oculo-facial syndrome (BOFS) is a craniofacial disorder caused by TFAP2A mutations. In a family segregating ARVD/C, some members also had features of BOFS. Genetic testing for ARVD/C identified a mutation in PKP2,...
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