Sindrome QT breve correlata a SLC4A3 valutata in cardiomiociti derivati da cellule staminali pluripotenti umane: meccanismi di aritmia ventricolare e morte cardiaca improvvisa.

BACKGROUND AND AIMS: Short QT syndrome (SQTS) is an inherited channelopathy that can cause sudden cardiac death. Recent research has implicated mutations in the SLC4A3 gene as a cause of SQTS, but the mechanisms of shortened action potential duration (APD) and arrhythmia vulnerability have not been described. This study aims to evaluate the underlying pathophysiology causing a shortened APD and ventricular arrhythmia vulnerability in SLC4A3-associated SQTS through mechanistic studies of novel SLC4A3 mutations responsible for familial SQTS. METHODS: This study evaluated the function and pathophysiology of two novel SLC4A3 variants (p.Arg370Cys and p.Lys531Thr) responsible for SQTS in their r