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Congenital Heart Disease GEnetic NEtwork Study (CHD GENES)

  • Study HIC#:1010007481
  • Last Updated:11/11/2022

The purpose of the study is to discover the genetic causes of congenial heart defects.

  • GenderBoth
  • Start Date11/06/2010
  • End Date08/31/2020

Trial Purpose and Description

Congenital heart defects (CHD) are the most common major human birth malformation, affecting ~8 per 1,000 live births. CHD are associated with significant morbidity and mortality, and are second only to infectious diseases in contributing to the infant mortality rate. Current understanding of the etiology of pediatric cardiovascular disorders is limited.

The Congenital Heart Disease GEnetic NEtwork Study (CHD GENES) is a multi-center, prospective observational cohort study. Participants will be recruited from the Pediatric Cardiac Genomics Consortium's (PCGC) centers of the NHLBI-sponsored Bench to Bassinet (B2B) Program. Biological specimens will be obtained for genetic analyses, and phenotype data will be collected by interview and from medical records. State-of-the-art genomic technologies will be used to identify common genetic causes of CHD and genetic modifiers of clinical outcome.

To accomplish this, the PCGC will develop and maintain a biorepository of specimens (DNA) and genetic data, along with detailed, phenotypic and clinical outcomes data in order to investigate relationships between genetic factors and phenotypic and clinical outcomes in congenital heart disease.

Eligibility Criteria

Inclusion Criteria:

  • Signed consent form

Exclusion Criteria:

  • Isolated patent foramen ovale
  • Isolated prematurity-associated patent ductus arteriosus


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