A Novel Mutation in the KCNH2 Gene Associated with Long QT Syndrome: A Case Report

被引：0

作者：

Zha, Kelan ^{[1
]}

Ye, Qiang ^{[1
]}

机构：

[1] Southwest Med Univ, Dept Cardiol, Affiliated Hosp, 25 Taiping St, Luzhou City 646000, Sichuan, Peoples R China

来源：

ANNALS OF CLINICAL AND LABORATORY SCIENCE | 2021年 / 51卷 / 02期

关键词：

KCNH2; gene; long QT syndrome; mutation; LQT2; THERAPY;

D O I：

暂无

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

Objective. Long QT syndrome is a cardiovascular disease with a prolonged QT interval. Case report. We report a 22-year-old woman presenting with frequent syncopal episodes two months after childbirth. Electrocardiography showed a sinus rhythm, QT interval prolongation, and Torsade de Pointes. Her mother had experienced an episode of syncope, but her father had not. Genetic analyses revealed that a new mutation in the KCNH2 gene, the c.2108dupA mutation (p.H703Qfs*20, exon8, M_000238), was found in the patient and in her mother and sister. Conclusion. The c.2108dupA mutation (p.H703Qfs*20, exon8, M_000238) is the first reported case of a KCNH2 mutation at this site.

引用

页码：258 / 261

页数：4

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