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Arrhythmogenic right ventricular cardiomyopathy: reassessing the link with the desmosome

Summary Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an uncommon heart disease characterised by arrhythmias, right ventricular scarring, and fibrofatty change. Although mutations in the desmosome have been frequently observed in patients clinically diagnosed with ARVC, recent data have put a direct causal relationship in question. Many patients with ARVC and mutations have not had histological confirmation, and many family members with mutations are not affected. Desmosomal mutations have been found in other cardiac diseases, and the specificity of histopathological features is even in question. We aim to review the purported link between ARVC and the desmosome by a critical analysis of reported data.