The Congenital Heart Disease Genetic Network Study: Cohort description

• Published in: PloS one Vol. 13; no. 1; p. e0191319
• Main Authors: Hoang, Thanh T, Goldmuntz, Elizabeth, Roberts, Amy E, Chung, Wendy K, Kline, Jennie K, Deanfield, John E, Giardini, Alessandro, Aleman, Adolfo, Gelb, Bruce D, Mac Neal, Meghan, Porter, Jr, George A, Kim, Richard, Brueckner, Martina, Lifton, Richard P, Edman, Sharon, Woyciechowski, Stacy, Mitchell, Laura E, Agopian, A J
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 19.01.2018; Public Library of Science (PLoS)
• Subjects: Adult; Biology and Life Sciences; Cardiovascular diseases; Children; Cohort Studies; Congenital diseases; Congenital heart defects; Consortia; Coronary artery disease; Defects; Diabetes; Diabetes mellitus; Diagnosis; Disabilities; Epidemiology; Female; Gene Regulatory Networks; Genetic aspects; Genetic screening; Genomics; Genotypes; Health aspects; Health risk assessment; Heart Defects, Congenital - genetics; Heart Defects, Congenital - physiopathology; Heart diseases; Humans; Male; Medicine and Health Sciences; Neurodevelopment; Obstructions; Outflow; Pediatrics; Phenotype; Phenotypes; Sex; Social Sciences; Tetralogy of Fallot; Ventricle; New York; Los Angeles California; United Kingdom > UK; United States > US; Texas; Connecticut; England; Pennsylvania
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0191319

The Pediatric Cardiac Genomics Consortium (PCGC) designed the Congenital Heart Disease Genetic Network Study to provide phenotype and genotype data for a large congenital heart defects (CHDs) cohort. This article describes the PCGC cohort, overall and by major types of CHDs (e.g., conotruncal defects) and subtypes of conotrucal heart defects (e.g., tetralogy of Fallot) and left ventricular outflow tract obstructions (e.g., hypoplastic left heart syndrome). Cases with CHDs were recruited through ten sites, 2010-2014. Information on cases (N = 9,727) and their parents was collected through interviews and medical record abstraction. Four case characteristics, eleven parental characteristics, and thirteen parent-reported neurodevelopment outcomes were summarized using counts and frequencies and compared across CHD types and subtypes. Eleven percent of cases had a genetic diagnosis. Among cases without a genetic diagnosis, the majority had conotruncal heart defects (40%) or left ventricular outflow tract obstruction (21%). Across CHD types, there were significant differences (p<0.05) in the distribution of all four case characteristics (e.g., sex), four parental characteristics (e.g., maternal pregestational diabetes), and five neurodevelopmental outcomes (e.g., learning disabilities). Several characteristics (e.g., sex) were also significantly different across CHD subtypes. The PCGC cohort is one of the largest CHD cohorts available for the study of genetic determinants of risk and outcomes. The majority of cases do not have a genetic diagnosis. This description of the PCGC cohort, including differences across CHD types and subtypes, provides a reference work for investigators who are interested in collaborating with or using publically available resources from the PCGC.