Heida Annejet, van der Does Lisette J M E, Ragab Ahmed A Y, de Groot Natasja M S
Department of Cardiology, Erasmus Medical Center, Rotterdam, Netherlands.
Case Rep Med. 2019 Jun 20;2019:1384139. doi: 10.1155/2019/1384139. eCollection 2019.
We report a 37-year-old woman with an out-of-hospital cardiac arrest caused by ventricular fibrillation due to digenic inheritance of long QT syndrome type 2 ( gene) and type 6 ( gene). During hospitalization, prolonged QTc intervals and frequent episodes of ventricular tachyarrhythmias manifested. Genetic testing identified a mutation of the gene and an unclassified variant, most likely pathogenic, of the gene. This digenic inheritance is extremely rare.
我们报告了一名37岁女性，因2型长QT综合征（基因）和6型长QT综合征（基因）的双基因遗传导致心室颤动，从而发生院外心脏骤停。住院期间，出现了QTc间期延长和频繁的室性快速心律失常发作。基因检测发现基因发生突变，基因存在一个最有可能致病的未分类变异。这种双基因遗传极为罕见。
