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The Congenital Heart Disease Genetic Network Study

2013; Lippincott Williams & Wilkins; Volume: 112; Issue: 4 Linguagem: Inglês

10.1161/circresaha.111.300297

1524-4571

Bruce D. 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 E. Seidman, Barbara McDonough, Jonathan G. Seidman, Elizabeth Goldmuntz, Sharon Edman, Jennifer Garbarini, Hákon Hákonarson, Laura Mercer‐Rosa, Laura E. Mitchell, Jessica Tusi, Peter S. White, Stacy Woyciechowski, Wendy K. Chung, Dorothy Warburton, Danielle Awad, Katrina Celia, Davina Etwaru, Jaswinder Sond, Jennie Kline, Rosalind Korsin, Alyssa Lanz, Emma Marquez, Ismee Williams, Abigail Wilpers, Roslyn Yee, Bruce D. 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 P. Lifton, Nancy Cross, John Deanfield, Anna Giardini, Karen A. Flack, George A. Porter, Eileen Taillie, Richard Kim, Nhu Tran, Sharon L. Tennstedt, Roger E. Breitbart, Kimberly J. Dandreo, Dianne Gallagher, Minmin Lü, Lynn A. Sleeper, Dorit S. Berlin, Christine Beiswanger, Richard P. Lifton, Jonathan G. Seidman, Hákon Hákonarson, Peter S. White, Mike Italia, Wendy K. Chung, Christine E. Seidman, Maria M. Brooks, Michelle Olive, Jeffrey R. Botkin, Josée Dupuis, Vidu Garg, Mike Watson, James Bristow, Todd Evans, Christina Kendziorski, Elaine R. Mardis, Jeffrey C. Murray, Joel Saltz, Hector R. Wong,

Genomics and Rare Diseases

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.