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

Zha, Kelan
Ye, Qiang

Department of Cardiology, The Affiliated Hospital of Southwest Medical University, China

Address correspondence to Qiang Ye, Department of Cardiology, The Affiliated Hospital of Southwest Medical University, No.25 Taiping Street, Jiangyang District, Luzhou City, Sichuan Province, 646000, China; phone: +86 0830 3165120; fax: +86 0830 2392753; e mail: [email protected]

Annals of Clinical & Laboratory Science 51(2):p 258-261, March-April 2021.

Abstract.

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.