PKP2 and arrhythmogenic right ventricular cardiomyopathy: On the nuclear genome side, Elliot et al. [25] reported a range of missense and splicing mutations in desmosomal genes, including PKP2 (S140F and H877Q) and DSP (IVS15–1G>C and A2712T), alongside variants of uncertain significance such as V56M (DSG2) and G863R (DSC2), typically found in cases of arrhythmogenic right ventricular cardiomyopathy reported in literature (ARVC).