Angela C. Onorato, Rachel Gosselin, Bimal P. Chaudhari, Chance Alvarado, Peter White, Vidu Garg, Amee M. Bigelow
Nationwide Children’s Hospital.
United States
Research Square
Res Sq 2025;
DOI: 10.21203/rs.3.rs-6314694/v1
Abstract
Genetic testing guidelines for children in cardiac intensive care units (CICUs) are lacking despite a high prevalence of genetic diseases among this population. Advances in next-generation sequencing (NGS) technologies, especially exome and genome sequencing (ES/GS), enable a more comprehensive genetic evaluation than more traditional testing modalities such as chromosomal microarray (CMA). While testing recommendations exist for cardiomyopathies, primary arrhythmias, and pulmonary hypertension (PH), broad application of NGS, especially ES/GS, across indications for admission to CICUs has not been recommended. We aimed to evaluate the diagnostic efficacy of ES/GS in critically ill pediatric patients with cardiac disease via a retrospective chart review of patients who underwent clinical ES/GS in a quaternary hospital’s pediatric CICU between January 2020 and August 2023. Forty-nine patients underwent ES/GS. Primary cardiac phenotypes included congenital heart disease, ventricular dysfunction, arrhythmia, and PH. Diagnostic results were found in 22 patients (44.9%) with 18/22 (81.8%) linked to cardiac phenotypes. Diagnostic yield was not different among primary cardiac phenotype groups but was higher in patients with ECA. CMA and gene panels would have failed to make a substantial proportion (80.6% and 36%, respectively) of diagnoses made by ES/GS. As NGS technologies and capabilities to interpret ES/GS data mature, diagnostic abilities in pediatric cardiac disease will continue to advance.
Category
Genetic Factors Associated with Pulmonary Vascular Disease
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes