The Congenital Heart Disease Genetic Network Study
Authors:   Pediatric Cardiac Genomics Consortium,   Writing Committee:, Gelb Bruce , Brueckner Martina , Chung Wendy , Goldmuntz Elizabeth , Kaltman Jonathan , Pablo Kaski Juan , Kim Richard , Kline Jennie , Mercer-Rosa Laura , Porter George , Roberts Amy , Rosenberg Ellen , Seiden Howard , Seidman Christine , Sleeper Lynn , Tennstedt Sharon ,   National Heart, Lung, and Blood Institute:, Kaltman Jonathan , Schramm Charlene , Burns Kristin , Pearson Gail , Rosenberg Ellen ,   Clinical Sites:, Newburger Jane , Breitbart Roger , Colan Steven , Geva Judith , Monafo Angela , Roberts Amy , Stryker Janice , Seidman Christine , McDonough Barbara , Seidman Jonathan , Goldmuntz Elizabeth , Edman Sharon , Garbarini Jennifer , Hakonarson Hakon , Mercer-Rosa Laura , Mitchell Laura , Tusi Jessica , White Peter , Woyciechowski Stacy , Chung Wendy , Warburton Dorothy , Awad Danielle , Celia Katrina , Etwaru Davina , Sond Jaswinder Kaur , Kline Jennie , Korsin Rosalind , Lanz Alyssa , Marquez Emma , Williams Ismee , Wilpers Abigail , Yee Roslyn , Gelb Bruce , Guevara Denise , Julian Ariel , Mac Neal Meghan , Mintz Cassie , Peter Inga , Sachidanandam Ravi , Seiden Howard , Romano-Adesman Angela , Gruber Dorota , Stellato Nancy , Brueckner Martina , Lifton Richard , Cross Nancy , Deanfield John , Giardini Alessandro , Flack Karen , Porter George , Taillie Eileen , Kim Richard , Tran Nhu ,   Data Coordinating Center:, Tennstedt Sharon , Breitbart Roger , Dandreo Kimberly , Gallagher Dianne , Lu Minmin , Sleeper Lynn ,   Core Laboratories for PCGC:,   Biorepository, Coriell Institutes:, Berlin Dorit , Beiswanger Christine ,   Whole Exome Sequencing, Yale University:, Lifton Richard ,   Candidate Gene Evaluation and RNASeq, Harvard Medical School:, Seidman Jonathan ,   Genotyping Array, Children’s Hospital Philadelphia:, Hakonarson Hakon ,   Data Hub, Children’s Hospital Philadelphia:, White Peter , Italia Mike ,   Confirmation, Columbia University:, Chung Wendy ,   Whole Genome Sequencing Harvard Medical School and Brigham & Women’s Hospital:, Seidman Christine ,   Observational Study Monitoring Board:, Brooks (Chair) Maria , Olive Michelle , Botkin Jeffrey , Dupuis Josee , Garg Vidu , Watson Mike ,   External Advisory Committee:, Bristow James , Evans Todd , Kendziorski Christina , Mardis Elaine , Murray Jeffrey , Saltz Joel , Wong Hector 
Published: February 2013

Congenital heart defects (CHD) are the leading cause of infant mortality among birth defects, and later morbidities and premature mortality remain problematic. Although genetic factors contribute significantly to cause CHD, specific genetic lesions are unknown for most patients. The National Heart, Lung, and Blood Institute-funded Pediatric Cardiac Genomics Consortium established the Congenital Heart Disease Genetic Network Study to investigate relationships between genetic factors, clinical features, and outcomes in CHD. The Pediatric Cardiac Genomics Consortium comprises 6 main and 4 satellite sites at which subjects are recruited, and medical data and biospecimens (blood, saliva, cardiovascular tissue) are collected. Core infrastructure includes an administrative/data-coordinating center, biorepository, data hub, and core laboratories (genotyping, whole-exome sequencing, candidate gene evaluation, and variant confirmation). Eligibility includes all forms of CHD. Annual follow-up is obtained for probands <1-year-old. Parents are enrolled whenever available. Enrollment from December 2010 to June 2012 comprised 3772 probands. One or both parents were enrolled for 72% of probands. Proband median age is 5.5 years. The one third enrolled at age <1 year are contacted annually for follow-up information. The distribution of CHD favors more complex lesions. Approximately, 11% of probands have a genetic diagnosis. Adequate DNA is available from 97% and 91% of blood and saliva samples, respectively. Genomic analyses of probands with heterotaxy, atrial septal defects, conotruncal, and left ventricular outflow tract obstructive lesions are underway. The scientific community’s use of Pediatric Cardiac Genomics Consortium resources is welcome.