Trenkwalder Teresa, Deisenhofer Isabel, Hadamitzky Martin, Schunkert Heribert, Reinhard Wibke
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.
BMC Med Genet. 2015 Dec 23;16:117. doi: 10.1186/s12881-015-0263-1.
Arrhythmogenic 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.
We 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.
Our findings emphasize the importance of genetic family screening after the identification of a causative mutation in an index case.
致心律失常性右室心肌病（ARVC）是一种主要在年轻人中发现的遗传性疾病，可导致恶性心律失常，进而引发心源性猝死。由于症状不具特异性，ARVC的诊断仍然具有挑战性，需要进行临床检测并具备专业知识。对索引患者进行基因检测有助于初步诊断，对家庭成员进行进一步检测可能有助于预防心源性猝死。
我们报告一例新诊断的ARVC病例，基因检测在PKP2基因中发现了一种新的家族性移码突变。对家庭成员的筛查发现，按照常染色体显性遗传模式，孩子和父亲均为突变携带者。
我们的研究结果强调了在索引病例中鉴定出致病突变后进行基因家族筛查的重要性。
