The Role of Clinical Observation: Red Flag 5 — Right Ventricular Involvement, Arrhythmogenic Right Ventricular Cardiomyopathy and Associated Phenotypes

摘要: 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 main genetic cause disease, which is histologically characterized by myocellular atrophy with characteristic fibro-fatty replacement [1]. From structural point view, as observed imaging techniques such echocardiography (Fig. 7.1) and cardiac magnetic resonance imaging, pathological hallmark disease thin ventricle usually bulges sacculations, typically located “triangle dysplasia” (apex, outflow tract subtricuspid areas). Symptomatic or asymptomatic arrhythmias origin present, more advanced cases severe enlargement systolic dysfunction can be present.