Congenital Heart Disease GEnetic NEtwork Study (CHD GENES)

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.