Patients with biallelic variants in ALPK3 display severe, often early-onset, cardiomyopathy. Affected individuals often present with dilated cardiomyopathy (DCM) that later progresses to hypertrophic cardiomyopathy (HCM). Extracardiac features, including musculoskeletal and craniofacial abnormalities, may also be observed.
ALPK3-cardiomyopathy is a rare autosomal recessive disorder. Its exact prevalence is not yet known. Heterozygous carriers of truncating variants may be at increased risk of developing cardiomyopathy at adult age.