The Genetic Basis of Primary Cardiomyopathies in Childhood: Implications for Clinical Genetic Testing

摘要

Pediatric primary cardiomyopathies comprise a clinically and genetically heterogeneous group of rare heart muscle disorders, which can cause significant morbidity and mortality in children. Collectively, these conditions are rare, with an annual incidence of ~ 1 to 1.5 per 100 000 children.1 The most frequently described subtypes in children and young adults are dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM). Restrictive cardiomyopathy (RCM) and (left ventricular) noncompaction cardiomyopathy are less common, and arrhythmogenic cardiomyopathy (ACM) is rare. Genetic testing can inform the diagnosis and management of patients and their at-risk relatives, and is recommended by clinical guidelines.