A Rare Case of the Digenic Inheritance of Long QT Syndrome Type 2 and Type 6. (20th June 2019)

• Record Type: Journal Article
• Authors: Heida, Annejet; van der Does, Lisette J. M. E.; Ragab, Ahmed A. Y.; de Groot, Natasja M. S.
• Other Names: Bauer Alexander Academic Editor.
• Is Part Of: Case reports in medicine. Volume 2019(2019)
• Publication Date: 2019-06-20
• Subjects: Medicine -- Periodicals; Medicine -- Periodicals; Medicine; Case Reports; Periodicals; 610
• DOI: 10.1155/2019/1384139
• Languages: English
• ISSNs: 1687-9627

Abstract

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 ( KCNH2 gene) and type 6 ( KCNE2 gene). During hospitalization, prolonged QTc intervals and frequent episodes of ventricular tachyarrhythmias manifested. Genetic testing identified a mutation of the KCNH2 gene and an unclassified variant, most likely pathogenic, of the KCNE2 gene. This digenic inheritance is extremely rare.