Role of Genetic Testing for Cardiomyopathies in Pediatric Patients With Left Ventricular Dysfunction Secondary to Chemotherapy

Improved cancer therapies have significantly increased survival in oncological pediatric patients. However, cardiac dysfunction secondary to chemotherapy represents a major complication that may affect long-term prognosis.1 Anthracyclines are the most frequently used drugs, and their associated cardiotoxicity is well established. Several risk factors for cardiotoxicity have been identified, including cumulative drug dose, age at cancer diagnosis, female sex, race, and chest radiation. In addition, evidence of genetic susceptibility in determining anthracycline-related cardiomyopathy has recently been proposed.2,3 In adults, dilated cardiomyopathy (DCM) develops according to a double-hit model in which environmental factors such as chemotherapy are superimposed on the presence of a rare pathogenic variant. In children, however, data are limited to a single study subset,3 and the role of genetic screening in this setting is unresolved.