A Rare Case of the Digenic Inheritance of Long QT Syndrome Type 2 and Type 6
- Heida, A. (Annejet)
- Does, J.M.E. (Lisette) van der
- Ragab, A.A.Y. (Ahmed A. Y.)
- Groot, N.M.S. (Natasja) de
DOIAbstract
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
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