Arrhythmic risk stratification in arrhythmogenic cardiomyopathy: New predictors for left-sided variants?

Abstract

Phenotypic features and heterogeneous genetic basis of ALVC. Low QRS voltages (A), negative T-waves in left precordial leads (B), and premature ventricular beats (C) are the most striking electrical manifestations of the ALVC phenoype, that is characterized by a nondilated and hypokinetic left ventricle, with mild systolic dysfunction and prominent non-ischaemic late-gadolinium enhancement/myocardial fibrosis (D, E) underlying life-threatening ventricular arrhythmias (F) and sudden cardiac death.8 The outer part of the figure shows the heterogeneous genetic background of ALVC with involvement of either desmosomal and non-desmosomal genes, including PLN. The diagnosis of ALVC requires demonstration of a pathogenic arrhythmogenic cardiomyopathy-causing gene mutation, because phenotypic features do not provide sufficient disease specificity due to the overlap with other heart muscle diseases such as idiopathic dilated cardiomyopathy, myocarditis, or cardiac sarcoidosis.9 ALVC, arrhythmogenic left ventricular cardiomyopathy; DES, desmin; DSP, desmoplakin; FLNC, filamin C; LMNA, lamin A/C; PLN, phospholamban; RBM20, RNA-binding motif protein 20; TMEM43, transmembrane protein 43; TTN, titin.