Diagnostic Exome Sequencing in Pediatric Patients with Congenital Heart Disease.

Since 2011, diagnostic exome sequencing (DES) has proven beneficial in providing molecular diagnoses for patients with a spectrum of previously undiagnosed genetic diseases. Congenital heart defects (CHD) are a common comorbidity in Mendelian disorders, with pathogenic mutations increasingly found. This study aimed to evaluate the clinical utility of DES and to characterize the pathogenic findings in an unselected cohort of pediatric patients with CHDs.