Furthermore, our previous studies also highlight the requirement for two human desmosomal mutations—this PKP2 RNA splice site (IVS10-1G>C) mutation and a DSP mutation; and thus, a compound heterozygous mutation—in order to elicit early and severe ARVC in a heterozygous setting in mouse in vivo28. This evidence concerns the gene DSP and arrhythmogenic right ventricular cardiomyopathy.