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

الملخص EN

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.