Congenital heart disease (CHD) is the most common birth defect with an incidence of 1 in 100 live births.  Many cytogenetic abnormalities have been associated with CHD.  Evidence is accumulating that many developmental defects can result from small genomic alterations invisible at the cytogenetic level, resulting in changes in copy number of contiguous genes.  As a site in the National Heart, Lung, and Blood Institute-sponsored Pediatric Cardiac Genomics Consortium (PCGC) we will work to help elucidate the potential genetic causes of congenital heart disease.  Our goal is to recruit 2000 families in which there is at least one member who has a history of congenital heart disease. We aim to identify a comprehensive repertoire of genes responsible for CHD through genomic analyses including (but not limited to) copy-number variation, genome-wide association studies, and whole exome sequencing.  We aim to identify mutations responsible for CHD in large numbers of participants through sequencing of known CHD candidate genes.  Lastly, we will undertake genotype/phenotype correlations of enrolled participants to determine how genetics influences the clinical outcome in CHD.  To accomplish this, the consortium will develop and maintain a biorepository of specimens and genetic data, along with detailed phenotypic and clinical outcome data in order to investigate relations between genetic factors, phenotypic and clinical outcomes in congenital heart disease.  Through an increased understanding of the causes and modifiers of congenital heart disease, the long term goal is to enhance early detection, treatment and prevention of cardiovascular disease.

NYP/Columbia is one of five clinical sites in the National Heart, Lung, and Blood Institute-sponsored Pediatric Cardiac Genomics Consortium (PCGC).