作者
Maximilian G Posch, Andreas Perrot, Christian Geier, Leif-Hendrik Boldt, Gunther Schmidt, Hans B Lehmkuhl, Roland Hetzer, Rainer Dietz, Matthias Gutberlet, Wilhelm Haverkamp, Cemil Özcelik
发表日期
2009/4/1
期刊
Heart Rhythm
卷号
6
期号
4
页码范围
480-486
出版商
Elsevier
简介
BACKGROUND
Familial dilated cardiomyopathy is a highly heterogeneous genetic disease. Thus, identification of disease-causing mutations is a challenging and time-consuming task. Genotype–phenotype associations may alleviate identification of the underlying mutation.
OBJECTIVE
The purpose of this study was to investigate cardiac phenotypes within a family harboring a familial dilated cardiomyopathy–related mutation in the gene encoding phospholamban (PLN-R14Del).
METHODS
Complete genetic and clinical analyses were performed in a family with familial dilated cardiomyopathy due to the PLN-R14Del mutation. Family relatives were studied by ECG, Holter ECG, echocardiography, ECG body surface potential mapping, and cardiac magnetic resonance imaging.
RESULTS
A candidate gene approach resulted in identification of a heterozygous deletion of arginine 14 in the gene encoding …
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MG Posch, A Perrot, C Geier, LH Boldt, G Schmidt… - Heart Rhythm, 2009
