Arrhythmogenic Left Ventricular Cardiomyopathy – State of Art: From Genotype to Phenotype

Abstract

Arrhythmogenic cardiomyopathy with exclusive or predominant involvement of the left ventricle has been described recently. It has a heterogeneous genetic basis with different clinical phenotypes ranging from ventricular arrhythmias and sudden death (SD), symptoms suggestive of acute myocarditis with chest pain and troponin elevation, symptoms of heart failure, to asymptomatic patients. A high level of suspicion is needed for a correct diagnosis and implementation of a genotype-based therapy, to prevent its most feared complication, SD. This review aims to describe arrhythmogenic left ventricular cardiomyopathy as a genetic heart disease, with initial and/or predominant involvement of the left ventricle and its varied phenotypic expression, providing a basis for clinical reasoning and “red-flags” for the diagnosis, as well as for SD risk stratification.