Novel deletion mutation in the cardiac sodium channel inactivation gate causes long QT syndrome

Abstract

Disturbances in cardiac sodium channel function are associated with inherited arrhythmia susceptibility. Mutations in SCN5A, which encodes the cardiac sodium channel (NaV1.5), cause congenital long QT syndrome type 3 (LQT3), Brugada syndrome (BrS) and a variety of cardiac conduction disorders (CCD) [1,2]. These disorders have can have complex genotype-phenotype relationships [3,4]. Here we report the clinical features of an LQTS family segregating a novel amino acid deletion mutation (N1472del) in SCN5A that produces a unique pattern of biophysical disturbances consistent with the clinical phenotype.