CHD GENES Study

PCGC Centers are recruiting individuals of all ages with congenital heart disease to obtain DNA as well as detailed phenotypic and clinical data, and will follow them over time to collect outcomes data. The PCGC will use state-of-the-art genetic techniques to interrogate the genome for single nucleotide polymorphisms and structural variations and to conduct high-throughput, large-scale sequencing. The biological samples, which will remain linked to detailed clinical data, will continue to serve as a resource for long-term investigations into the genetic basis of pediatric cardiovascular disorders. The PCGC will significantly increase understanding of the causes and modifiers of pediatric cardiovascular pathology, and over time will enhance early detection, treatment and prevention of congenital heart disease in newborns, children, and adults.

Authorized access to PCGC phenotype, sequence, and genotype data can be requested through dbGaP. Local IRB approval is required.

CHD GENES Enrollment
Subjects Enrolled: 11,991
Relatives Enrolled: 16,483
as of 8/31/2018