Multifocal ectopic purkinje-related premature contractions and related cardiomyopathy

In the past 20 years, genetic variants in SCN5A encoding cardiac voltage-gated sodium channel Na v 1.5 have been linked to a range of inherited arrhythmias: resulting loss-of-function sick sinus syndrome, atrial stand still, fibrillation (AF) impaired pulse generation, progressive and non-progressive conduction defects, Brugada Syndrome (BrS), sudden death. causing increased current during plateau phase action potential is associated with Long QT type 3 (LQTS3), Torsade de Pointes ventricular tachycardia SCD. Recently, gain-of-function complex electrical phenotypes, such as Multifocal Ectopic Purkinje-related Premature Contractions (MEPPC) syndrome. MEPPC rare condition characterized by high burden premature contractions (PACs) and/or (PVCs) often accompanied dilated cardiomyopathy (DCM). an autosomal dominant fashion almost complete penetrance. The onset childhood. link between variants, DCM currently not well understood, but amino acid substitutions or introduction gating pore currents potentially play important role. patients phenotype respond relatively poorly standard heart failure medical therapy catheter ablation PVCs originate from all parts fascicular Purkinje fiber network. Class 1c inhibitors, notably flecainide, remarkable positive effect on ectopic cardiomyopathy. This highlights importance screening identify MEPPC. Here we review phenotype, MEPPC- pathogenesis treatment options.