Deciphering the pathogenic role of a variant with uncertain significance for short QT and Brugada syndromes using gene‐edited human‐induced pluripotent stem cell‐derived cardiomyocytes and preclinical drug screening

Abstract excerpt

In the present study, we show that the Calcium Voltage-Gated Channel Auxiliary Subunit Beta 2 (CACNB2) variant c.1439C>T/p.S480L is linked to the clinical phenotype of short QT syndrome 5 (SQTS5) overlapped with Brugada syndrome (BrS). The PI3K pathway may contribute to the arrhythmogenesis of the disease. PI3K-activator and amiodarone but not sotalol may be effective drugs for treating arrhythmias in...

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