This variant was previously detected in a heterozygous state in a human with restrictive cardiomyopathy; however, the presence of a concurrent variant in MYH7, an established susceptibility gene for restrictive cardiomyopathy, complicated prediction of the role of the ABCC9 variant in the cardiac phenotype of that patient [48,55]. The gene discussed is ABCC9; the disease is restrictive cardiomyopathy.