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Study Description

Multi-center, prospective observational cohort study of individuals with congenital heart defects (CHD). Phenotypic data and source DNA of probands, parents, and families of interest are being collected to investigate relationships between genetic factors and phenotypic and clinical outcomes in patients with CHD.

  • Study Weblinks:
  • Study Type:
    • Cohort
    • Parent-Offspring Trios
  • dbGaP estimated ancestry using GRAF-pop
  • Number of study subjects that have individual-level data available through Authorized Access:
Authorized Access
Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. The site also contains data dictionaries, variable summaries, documents, and truncated analyses, whenever available.

Study Inclusion/Exclusion Criteria

Inclusion criteria:

  • Age 0 - 114 years of age
  • Males and females
  • No ethnic or race restrictions
  • Sporadic and familial cases are included
  • Pregnant women who have a fetus with diagnosed CHD

Exclusion Criteria:

  • Isolated patent foramen ovale
  • Isolated prematurity-associated patent ductus arteriosus
  • Pulmonary stenosis secondary to twin-twin transfusion Syndrome
  • Lack of consent

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Sequencing Illumina HiSeq 2000 N/A N/A
Whole Genome Genotyping Illumina HumanOmni2.5 2443179 N/A
Whole Genome Genotyping Illumina HumanOmni1-Quad_v1-0_B 1051295 1049033
Study History

November 2010: First study visit

November 2011: First annual follow-up Visit for Probands =< 1 yr

Selected publications
Diseases/Traits Related to Study (MeSH terms)
Links to Related Resources
Authorized Data Access Requests
Study Attribution
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