Genetics of pediatric cardiomyopathies

Abstract

Genetic testing in children with cardiomyopathies can be helpful to confirm the diagnosis and clarify prognosis, determine if treatments are available such as for inborn errors of metabolism, and identify need for additional subspecialist medical care or surveillance such as occurs in many syndromic cardiomyopathies. Genetic testing also provides information to stratify risk for other family members, provide recurrence risk, and identify families that may consider options for family planning. In the future there may also be prevention and treatment strategies for individuals with pathogenic variants in sarcomere and other genes. The identification of families with pathogenic variants in these genes may promote more effective care for these children and their families.