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.

doi.org/10.1155/2019/1384139, hdl.handle.net/1765/117985
Case Reports in Medicine
Department of Cardiology

Heida, A., van der Does, L., Ragab, A.A.Y. (Ahmed A. Y.), & de Groot, N. (2019). A Rare Case of the Digenic Inheritance of Long QT Syndrome Type 2 and Type 6. Case Reports in Medicine, 2019. doi:10.1155/2019/1384139