作者
Moniek GPJ Cox, Paul A van der Zwaag, Christian van der Werf, Jasper J van der Smagt, Maartje Noorman, Zahir A Bhuiyan, Ans CP Wiesfeld, Paul GA Volders, Irene M van Langen, Douwe E Atsma, Dennis Dooijes, Arthur van den Wijngaard, Arjan C Houweling, Jan DH Jongbloed, Luc Jordaens, Maarten J Cramer, Pieter A Doevendans, Jacques MT de Bakker, Arthur AM Wilde, J Peter van Tintelen, Richard NW Hauer
发表日期
2011/6/14
期刊
Circulation
卷号
123
期号
23
页码范围
2690-2700
出版商
Lippincott Williams & Wilkins
简介
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.
Methods and Results
One hundred forty-nine ARVD/C index patients (111 male patients; age, 49±13 years) according to 2010 Task Force criteria and 302 relatives from 93 families (282 asymptomatic; 135 male patients; age, 44±13 years) were clinically and genetically characterized. DNA analysis comprised sequencing of plakophilin-2 (PKP2), desmocollin-2, desmoglein-2, desmoplakin, and plakoglobin and multiplex ligation-dependent probe amplification to identify large deletions in PKP2 …
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MGPJ Cox, PA van der Zwaag, C van der Werf… - Circulation, 2011