A novel de novo calmodulin mutation in a 6-year-old boy who experienced an aborted cardiac arrest

Abstract

Mutations in the human calmodulin genes (CALM1, CALM2, and CALM3) are associated with life-threatening conditions in childhood, such as idiopathic ventricular fibrillation (VF) and long QT syndrome (LQTS).1–3 Furthermore, CALM1 mutations were described in a catecholaminergic polymorphic ventricular tachycardia (CPVT)-like phenotype.4 Sudden unexplained death in the young can be the first clinical manifestation of an underlying arrhythmogenic disorder such as idiopathic VF.5,6 After an aborted cardiac arrest, determining the diagnosis begins with a systematic clinical evaluation.