title: The Congenital Heart Disease Genetic Network Study: rationale, design, and early results.
abstract: 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.
authors: Icahn School of Medicine at Mount Sinai, One Gustave Levy Place, Box 1040, New York, NY 10029, USA. bruce.gelb@mssm.edu
authors: Bruce
authors: B
authors: Gelb
authors: Martina
authors: M
authors: Brueckner
authors: Wendy
authors: W
authors: Chung
authors: Elizabeth
authors: E
authors: Goldmuntz
authors: Jonathan
authors: J
authors: Kaltman
authors: Juan Pablo
authors: JP
authors: Kaski
authors: Richard
authors: R
authors: Kim
authors: Jennie
authors: J
authors: Kline
authors: Laura
authors: L
authors: Mercer-Rosa
authors: George
authors: G
authors: Porter
authors: Amy
authors: A
authors: Roberts
authors: Ellen
authors: E
authors: Rosenberg
authors: Howard
authors: H
authors: Seiden
authors: Christine
authors: C
authors: Seidman
authors: Lynn
authors: L
authors: Sleeper
authors: Sharon
authors: S
authors: Tennstedt
authors: Jonathan
authors: J
authors: Kaltman
authors: Charlene
authors: C
authors: Schramm
authors: Kristin
authors: K
authors: Burns
authors: Gail
authors: G
authors: Pearson
authors: Ellen
authors: E
authors: Rosenberg
mesh_terms: D000293:Adolescent; D000328:Adult; D018070:Biological Specimen Banks / Q000458:organization & administration; D002648:Child; D002675:Child, Preschool; D002986:Clinical Trials as Topic; D003219:Confidentiality; D004252:DNA Mutational Analysis; D003625:Data Collection; D016208:Databases, Factual; D005500:Follow-Up Studies; D018628:Gene Dosage; D056726:Genetic Association Studies; D023281:Genomics; D005838:Genotype; D006330:Heart Defects, Congenital / Q000453:epidemiology / Q000235:genetics*; D006776:Hospitals, Pediatric / Q000458:organization & administration; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D033183:Interdisciplinary Communication; D054555:National Heart, Lung, and Blood Institute (U.S.) / Q000458:organization & administration*; D017063:Outcome Assessment, Health Care; D018579:Patient Selection; D010641:Phenotype; D011446:Prospective Studies; D012042:Registries / Q000941:ethics; D012577:Schools, Medical / Q000458:organization & administration; D057170:Translational Research, Biomedical / Q000458:organization & administration; D014481:United States; D055815:Young Adult