Variants in ASNA1 may cause a disease of the heart muscle (cardiomyopathy). In the hitherto described patients, the disease presented within the first weeks after birth and resulted in early cardiac failure and death.
ASNA1-related cardiomyopathy is an autosomal recessive disorder. This means that both copies of the gene have to have pathogenic mutations in order for the disease to develop. The exact prevalence of ASNA1-cardiomyopathy cannot be accurately estimated due to the limited number of cases reported to date. Carriers of one mutated copy of ASNA1 show no features of the disease.