Abstract 14840: International Calmodulinopathy Registry (ICaMR)

Introduction: The recently discovered association between Calmodulin (CaM) mutations and diverse conditions associated with life-threatening arrhythmias, ranging from long QT syndrome (LQTS), to catecholaminergic polymorphic ventricular tachycardia (CPVT), to idiopathic ventricular fibrillation (IVF), has led to the definition of a new clinical entity called calmodulinopathy. Only a few reports based on small numbers are available so far. To define the natural history and response to therapy we have established an international calmodulinopathy registry (ICaMR). Methods: ICaMR is an observational multi-center study enrolling patients (pts) with a mutation in one of the 3 CaM genes, which will be followed prospectively for 10 years. Genetic and clinical data are collected through a dedicated form sent to centers in Europe, North America and Japan. Results: At this time the ICaMR includes 49 [55% females, median age 10 years] heterozygous CALM1(n=32), CALM2 (n=12) or CALM3 (n=5) mutation-positive subjects. ...