In this study, we reported two male patients with NLSDM presenting with severe dilated cardiomyopathy and mild skeletal myopathy and carrying a homozygous splicing mutation in PNPLA2. We also reviewed the clinical and genetic characteristics of cases with cardiomyopathy due to PNPLA2 mutation in the literature. This evidence concerns the gene PNPLA2 and dilated cardiomyopathy.