SLC4A3-related short QT syndrome assessed in human induced pluripotent stem cell-derived cardiomyocytes: mechanisms of ventricular arrhythmia and sudden cardiac death

In human cell models, SLC4A3 mutations responsible for SQTS result in loss-of-function leading to intracellular alkalinization, decreased ICa-L, and shortened APD, accounting for the clinical phenotype of short QT. Arrhythmic events in SLC4A3-associated SQTS are provoked by enhanced INCX evoking DADs.