Novel frame-shift mutation in PKP2 associated with arrhythmogenic right ventricular cardiomyopathy: a case report

BMC Medical Genetics

Case Report

Heribert Schunkert¹  Wibke Reinhard¹  Isabel Deisenhofer¹  Teresa Trenkwalder¹  Martin Hadamitzky² 

[1] Klinik für Herz- und Kreislauferkrankungen, Deutsches Herzzentrum München, Technische Universität München, Lazarettstr. 36, 80636, Munich, Germany;Deutsches Zentrum für Herz- und Kreislaufforschung (DZHK) e.V., Partner Site Munich Heart Alliance, Munich, Germany;Klinik für Radiologie und Nuklearmedizin, Deutsches Herzzentrum München, Technische Universität München, Munich, Germany;

关键词: Arrhythmogenic right ventricular cardiomyopathy;    PKP2;    genetic testing;   

DOI  :  10.1186/s12881-015-0263-1

 received in 2015-06-17, accepted in 2015-12-12,  发布年份 2015

来源: Springer

【 摘 要 】

BackgroundArrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is an inherited disease mainly found in young people causing malignant arrhythmias which can result in sudden cardiac death. Due to unspecific symptoms the diagnosis of ARVC is still challenging and requires clinical testing and expert knowledge. Genetic testing of index patients is helpful in the primary diagnosis and further testing of family members may allow for prevention of sudden cardiac death.Case presentationWe report a case of newly diagnosed ARVC where genetic testing identified a novel familial frame-shift mutation in the PKP2 gene. Screening of the family members identified both children and the father as mutation carriers following an autosomal-dominant inheritance pattern.ConclusionOur findings emphasize the importance of genetic family screening after the identification of a causative mutation in an index case.

【 授权许可】

CC BY   
© Trenkwalder et al. 2015