Article
Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study.
Circulation - 14 Jun 2011
Cox Moniek G P J, van der Zwaag Paul A, van der Werf Christian, van der Smagt Jasper J, Noorman Maartje, Bhuiyan Zahir A, Wiesfeld Ans C P, Volders Paul G A, van Langen Irene M, Atsma Douwe E, Dooijes Dennis, van den Wijngaard Arthur, Houweling Arjan C, Jongbloed Jan D H, Jordaens Luc, Cramer Maarten J, Doevendans Pieter A, de Bakker Jacques M T, Wilde Arthur A M, van Tintelen J Peter, Hauer Richard N W
Abstract excerpt
BACKGROUND: Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an autosomal dominant inherited disease with incomplete penetrance and variable expression. Causative mutations in genes encoding 5 desmosomal proteins are found in ≈50% of ARVD/C index patients. Previous genotype-phenotype relation studies involved mainly overt ARVD/C index patients, so follow-up data on relatives are scarce....
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