Loss of DSG2 function in humans is directly linked to arrhythmogenic right ventricular cardiomyopathy (ARVC), an autosomal recessive disease underpinned by myocyte apoptosis and fibrous degeneration of the myocardium (Pilichou et al., 2009). The gene discussed is DSG2; the disease is Arrhythmogenic right ventricular dysplasia.