Bihotzeko QT sindrome luzea, hERG kanaleko mutazioekin lotutako kanalopatia

Abstract

The KCNH2 gene encodes for the KV11.1 or hERG channel that mediates the I_Kr potassium current. This current is essential for ventricular repolarization in humans and, therefore, for proper cardiac function. Mutations in this gene can produce modified hERG channels, leading to a reduction in the I_Kr current. This reduction in I_Kr current causes an increase in the duration of cardiac repolarization and, therefore, an increase in the QT interval, as can be seen on the electrocardiogram. This prolongation of the QT interval leads to a cardiac pathology called long QT syndrome type 2, which increases the risk of serious, even fatal, arrhythmias.