Format

Send to

Choose Destination

See 1 citation found by title matching your search:

PLoS One. 2018 Jan 19;13(1):e0191319. doi: 10.1371/journal.pone.0191319. eCollection 2018.

The Congenital Heart Disease Genetic Network Study: Cohort description.

Author information

1
Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, Texas, United States of America.
2
Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America.
3
Department of Cardiology, Children's Hospital Boston, Boston, Massachusetts, United States of America.
4
Department of Pediatrics, Columbia University Medical Center, New York, New York, United States of America.
5
Department of Medicine, Columbia University Medical Center, New York, New York, United States of America.
6
Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York, United States of America.
7
Cardiothoracic Unit, Great Ormond Street Hospital, London, England.
8
University College London Institute of Cardiovascular Science, University College London, London, England.
9
Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.
10
Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.
11
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.
12
Department of Pediatrics, University of Rochester Medical Center, Rochester, New York, United States of America.
13
Section of Cardiothoracic Surgery, University of Southern California Keck School of Medicine, Los Angeles, California, United States of America.
14
Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, United States of America.
15
Yale Center for Mendelian Genomics, Yale University School of Medicine, New Haven, Connecticut, United States of America.
16
Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut, United States of America.
17
Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, Connecticut, United States of America.

Abstract

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.

PMID:
29351346
PMCID:
PMC5774789
DOI:
10.1371/journal.pone.0191319
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Public Library of Science Icon for PubMed Central
Loading ...
Support Center