Arrhythmogenic Right Ventricular Cardiomyopathy With Recessive Inheritance Related to a New Homozygous Desmocollin-2 Mutation

被引：15

作者：

Al-Sabeq, Basil ^{[1
]}

Krahn, Andrew D. ^{[2
]}

Conacher, Susan ^{[1
]}

Klein, George J. ^{[1
]}

Laksman, Zachary ^{[1
]}

机构：

[1] Univ Western Ontario, Dept Med, Div Cardiol, London, ON N6A 5A5, Canada

[2] Univ British Columbia, Dept Med, Div Cardiol, Vancouver, BC, Canada

来源：

CANADIAN JOURNAL OF CARDIOLOGY | 2014年 / 30卷 / 06期

关键词：

DSC2;

D O I：

10.1016/j.cjca.2014.01.014

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Arrhythmogenic right ventricular cardiomyopathy/dysplasia is an inherited cardiomyopathy that is transmitted in autosomal dominant and autosomal recessive forms and involves mutations in desmosomal and extradesmosomal genes. We present a case of arrhythmogenic right ventricular cardiomyopathy that cosegregates in a Lebanese family with a previously unreported desmocollin-2 mutation (c.712_714delGAT). We believe this newly described genetic variant displays autosomal recessive inheritance without the cutaneous manifestations expected in recessive genotypes, and represents the latest addition to the compendium of desmosomal mutations with pathogenic potential.

引用

页码：696.e1 / 696.e3

页数：3

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