The Congenital Heart Disease Genetic Network Study
Authors: Bruce Gelb, Martina Brueckner, Wendy Chung, Elizabeth Goldmuntz, Jonathan Kaltman, Juan Pablo Kaski, Richard Kim, Jennie Kline, Laura Mercer-Rosa, George Porter, Amy Roberts, Ellen Rosenberg, Howard Seiden, Christine Seidman, Lynn Sleeper, Sharon Tennstedt, Jonathan Kaltman, Charlene Schramm, Kristin Burns, Gail Pearson, Ellen Rosenberg, Jane Newburger, Roger Breitbart, Steven Colan, Judith Geva, Angela Monafo, Amy Roberts, Janice Stryker, Christine Seidman, Barbara McDonough, Jonathan Seidman, Elizabeth Goldmuntz, Sharon Edman, Jennifer Garbarini, Hakon Hakonarson, Laura Mercer-Rosa, Laura Mitchell, Jessica Tusi, Peter White, Stacy Woyciechowski, Wendy Chung, Dorothy Warburton, Danielle Awad, Katrina Celia, Davina Etwaru, Jaswinder Kaur Sond, Jennie Kline, Rosalind Korsin, Alyssa Lanz, Emma Marquez, Ismee Williams, Abigail Wilpers, Roslyn Yee, Bruce Gelb, Denise Guevara, Ariel Julian, Meghan Mac Neal, Cassie Mintz, Inga Peter, Ravi Sachidanandam, Howard Seiden, Angela Romano-Adesman, Dorota Gruber, Nancy Stellato, Martina Brueckner, Richard Lifton, Nancy Cross, John Deanfield, Alessandro Giardini, Karen Flack, George Porter, Eileen Taillie, Richard Kim, Nhu Tran, Sharon Tennstedt, Roger Breitbart, Kimberly Dandreo, Dianne Gallagher, Minmin Lu, Lynn Sleeper, Dorit Berlin, Christine Beiswanger, Richard Lifton, Jonathan Seidman, Hakon Hakonarson, Peter White, Mike Italia, Wendy Chung, Christine Seidman, Maria Brooks (Chair), Michelle Olive, Jeffrey Botkin, Josee Dupuis, Vidu Garg, Mike Watson, James Bristow, Todd Evans, Christina Kendziorski, Elaine Mardis, Jeffrey Murray, Joel Saltz, Hector Wong
Journal: Circulation Research (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.