The proband (IV.1) fulfilled the ARVC diagnostic criteria and presented with a previously reported deletion and insertion in exon 11 of PKP2 at c.2197-2202delinsG that resulted in a premature truncation of the protein (p.His733Alafs*8) (Table 1) [16]. The gene discussed is PKP2; the disease is Arrhythmogenic right ventricular dysplasia.