Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.

ABSTRACT: Genetic testing with exome sequencing and genome sequencing is increasingly offered to infants and children with cardiovascular diseases. However, the rates of positive diagnoses after genetic testing within the different categories of cardiac disease and phenotypic subtypes of congenital heart disease (CHD) have been little studied. We report the diagnostic yield after next-generation sequencing in 500 patients with CHD from diverse population subgroups that were enrolled at three different sites in the Clinical Sequencing Evidence-Generating Research consortium. Patients were ascertained due to a primary cardiovascular issue comprising arrhythmia, cardiomyopathy, and/or CHD, and corresponding human phenotype ontology terms were selected to describe the cardiac and extracardiac findings.

SUBMITTER: Slavotinek AM 

PROVIDER: S-EPMC11024993 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature