Benjamin J. Landis

APVR anomalous pulmonary venous return AUC area under the curve AVSD atrioventricular septal defect BRD body region dysmorphology/dysmorphism DCA decision curve analysis ECA extracardiac anomalies ES exome sequencing GS genome sequencing LVOTO left ventricular outflow tract obstruction RVOTO right ventricular outflow tract obstruction 1 Introduction Congenital heart disease/defects (CHD/CHDs) are the most common defects in humans, and genetic causes are identified in up to 20%–30% of patients...

Chromosomal microarray analysis (CMA) provides an opportunity to understand genetic causes of congenital heart disease (CHD). The methods for describing cardiac phenotypes in patients with CMA abnormalities have been inconsistent, which may complicate clinical interpretation of abnormal testing results and hinder a more complete understanding of genotype–phenotype relationships. Patients with CHD and abnormal clinical CMA were accrued from 9 pediatric cardiac centers.

Research LetterCardiologyGenetics Open Access | 10.1172/JCI180098 J Clin Invest. https://doi.org/10.1172/JCI180098. Copyright © 2024, Landis et al. This work is licensed under the Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. View PDF Version history Version 1 (July 30, 2024): In-Press Preview