ALPK3

Management

Unfortunately, no curative or preventive treatment is currently available.

Patients with ALPK3-cardiomyopathy need regular and life-long follow-up by a specialized cardiologist according to standard international guidelines. Extracardiac abnormalities are dealt with in a case-by-case manner. In children, a multidisciplinary approach is recommended to monitor growth and development and to ensure early detection of musculoskeletal and craniofacial abnormalities. Parents should be offered genetic counselling. Carrier testing for at-risk family members and prenatal diagnosis for pregnancies at increased risk are possible if the pathogenic variants in the family have been identified.