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2型和6型长QT综合征双基因遗传的罕见病例

A Rare Case of the Digenic Inheritance of Long QT Syndrome Type 2 and Type 6.

作者信息

Heida Annejet, van der Does Lisette J M E, Ragab Ahmed A Y, de Groot Natasja M S

机构信息

Department of Cardiology, Erasmus Medical Center, Rotterdam, Netherlands.

出版信息

Case Rep Med. 2019 Jun 20;2019:1384139. doi: 10.1155/2019/1384139. eCollection 2019.

Abstract

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/905d/6610752/93c493f4e814/CRIM2019-1384139.001.jpg

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