The role of clinical observation: Red flag 5-right ventricular involvement, arrhythmogenic right ventricular cardiomyopathy and associated phenotypes

Abstract

Studies relating to arrhythmogenic right ventricular cardiomyopathy (ARVC) have demonstrated that mutations in genes encoding different components of the desmosome, a major cell-adhesion structure, are the main genetic cause of the disease, which is histologically characterized by right ventricular myocellular atrophy with characteristic fibro-fatty replacement [1]. From a structural point of view, as observed by imaging techniques such as echocardiography (Fig. 7.1) and cardiac magnetic resonance imaging, the pathological hallmark of the disease is a thin right ventricle usually with bulges and sacculations, which are typically located in the triangle of dysplasia (apex, outflow tract and subtricuspid areas). Symptomatic or asymptomatic arrhythmias of right ventricular origin are usually present, and in more advanced cases a severe right ventricular enlargement with systolic dysfunction can be present.