Novel CPVT-Associated Calmodulin Mutation in <i>CALM3</i> (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks

Abstract

We discovered a novel CPVT mutation in the CALM3 gene that shares functional characteristics with established CPVT-associated mutations in CALM1. A small proportion of A103V-CaM is sufficient to evoke arrhythmogenic Ca disturbances via ryanodine receptor 2 dysregulation, which explains the autosomal dominant inheritance.