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

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 ma...

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Bibliographic Details
Main Authors: Annejet Heida, Lisette J. M. E. van der Does, Ahmed A. Y. Ragab, Natasja M. S. de Groot
Format: Article
Language:English
Published: Wiley 2019-01-01
Series:Case Reports in Medicine
Online Access:http://dx.doi.org/10.1155/2019/1384139
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Summary: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.
ISSN:1687-9627
1687-9635