A genetic screening for Melusin mutations in cardiomyopathic patients, performed by three independent laboratories, have revealed two missense mutations, a His13Tyr mutation in the CHORD I domain in a family with hypertrophic cardiomyopathy (Palumbo et al., 2009), and an Ala313Gly mutation in the carboxy terminal region linking the CS domain to the acidic domain in a family with dilated cardiomyopathy (Ruppert et al., 2013) but their segregation in the family members not always correlates with the onset of cardiomyopathy, making their causative significance unclear. This evidence concerns the gene ITGB1BP2 and cardiomyopathy.