Multiparametric Approach to Arrhythmogenic Cardiomyopathy: Clinical, Instrumental, and Lifestyle Indications

Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic disorder with an autosomal dominant inheritance and incomplete penetrance. It predominantly affects the right ventricle (RV), predisposing to the origin of ventricular arrhythmias and sudden death (SD). The structural basis of the disease consists of the progressive loss of myocardium with fibro-adipose replacement. ARVC is a "desmosomes" disease involving mutations of proteins such as placoglobin, desmoplachine, placophylline, desmoglein, and desmocollin. In the "classical" form, the disease mainly implicates the RV chamber, while the left ventricle (LV) is involved in advanced stages. Genotype-phenotype correlation studies have identified some phenotypic variants characterized by an early participation of the LV, which can proceed in parallel toward the two ventricles ("biventricular" variant) or prevails over the RV (variant to "left dominance"). These data led to the evolution of the initial definition of ARVC, which is currently considered a genetic disease of both ventricles and, therefore, deserves the denomination "arrhythmogenic cardiomyopathy". Many aspects of diagnosis, treatment, and indications for a correct lifestyle are important in sports medicine. This paper will discuss the clinical management of ARVC, with particular reference to diagnosis, risk stratification, therapy, and indications for physical activity.

Arrhythmogenic Right Ventricular Cardiomyopathy in Children: A Systematic Review

“…The evolution of the disease depends on cardiac electrical instability and the progressive deterioration of cardiac performance. Adrenergic tone may contribute to arrhythmogenesis because it increases the susceptibility to ventricular arrhythmias, especially during highintensity exercise [24]. The progressive deterioration of ventricular performance may lead to right or biventricular heart failure.…”