Journal article
The congenital heart disease genetic network study: Rationale, design, and early results
Circulation research, Vol.112(4), pp.698-706
02/15/2013
DOI: 10.1161/CIRCRESAHA.111.300297
PMCID: PMC3679175
PMID: 23410879
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.
Details
- Title: Subtitle
- The congenital heart disease genetic network study: Rationale, design, and early results
- Creators
- Bruce Gelb - Child Health and Development InstituteMartina Brueckner - Boston Children's HospitalWendy Chung - Great Ormond Street HospitalElizabeth Goldmuntz - Boston Children's HospitalJonathan Kaltman - Boston Children's HospitalJuan Pablo Kaski - Great Ormond Street HospitalRichard Kim - Great Ormond Street HospitalJennie Kline - Great Ormond Street HospitalLaura Mercer-Rosa - Great Ormond Street HospitalGeorge Porter - Boston Children's HospitalAmy Roberts - Boston Children's HospitalEllen Rosenberg - Great Ormond Street HospitalHoward Seiden - Great Ormond Street HospitalChristine Seidman - Boston Children's HospitalLynn Sleeper - Great Ormond Street HospitalSharon Tennstedt - Great Ormond Street HospitalCharlene Schramm - Great Ormond Street HospitalKristin Burns - Great Ormond Street HospitalGail Pearson - Great Ormond Street HospitalRoger Breitbart - Great Ormond Street HospitalSteven Colan - Boston Children's HospitalJudith Geva - Great Ormond Street HospitalAngela Monafo - Great Ormond Street HospitalJanice Stryker - Great Ormond Street HospitalBarbara McDonough - Great Ormond Street HospitalJonathan Seidman - Boston Children's HospitalSharon Edman - Great Ormond Street HospitalJennifer Garbarini - Great Ormond Street HospitalHakon Hakonarson - Great Ormond Street HospitalLaura Mitchell - Boston Children's HospitalJessica Tusi - Great Ormond Street HospitalPeter White - Great Ormond Street HospitalStacy Woyciechowski - Great Ormond Street HospitalDorothy Warburton - Great Ormond Street HospitalDanielle Awad - Great Ormond Street HospitalKatrina Celia - Great Ormond Street HospitalDavina Etwaru - Great Ormond Street HospitalJaswinder Kaur Sond - Great Ormond Street HospitalRosalind Korsin - Great Ormond Street HospitalAlyssa Lanz - Great Ormond Street HospitalEmma Marquez - Great Ormond Street HospitalIsmee Williams - Great Ormond Street HospitalAbigail Wilpers - Great Ormond Street HospitalRoslyn Yee - Great Ormond Street HospitalDenise Guevara - Great Ormond Street HospitalAriel Julian - Great Ormond Street HospitalMeghan Mac Neal - Icahn School of Medicine at Mount SinaiCassie Mintz - Great Ormond Street HospitalInga Peter - Boston Children's HospitalRavi Sachidanandam - Great Ormond Street HospitalAngela Romano-Adesman - Boston Children's HospitalDorota Gruber - Great Ormond Street HospitalNancy Stellato - Great Ormond Street HospitalRichard Lifton - Boston Children's HospitalNancy Cross - Great Ormond Street HospitalJohn Deanfield - Great Ormond Street HospitalAlessandro Giardini - University College London, United KingdomKaren Flack - Great Ormond Street HospitalEileen Taillie - Great Ormond Street HospitalNhu Tran - Great Ormond Street HospitalKimberly Dandreo - Great Ormond Street HospitalDianne Gallagher - Great Ormond Street HospitalMinmin Lu - Great Ormond Street HospitalDorit Berlin - Great Ormond Street HospitalChristine Beiswanger - Great Ormond Street HospitalMike Italia - Great Ormond Street HospitalMaria Brooks - University of PittsburghMichelle Olive - Great Ormond Street HospitalJeffrey Botkin - University of UtahJosee Dupuis - Boston UniversityVidu Garg - The Ohio State UniversityMike Watson - Great Ormond Street HospitalJames Bristow - Great Ormond Street HospitalTodd Evans - Great Ormond Street HospitalChristina Kendziorski - Great Ormond Street HospitalElaine Mardis - Boston Children's HospitalJeffrey Murray - University of IowaJoel Saltz - Emory UniversityHector Wong - Cincinnati Children's Hospital Medical CenterCore Laboratories for PCGC
- Resource Type
- Journal article
- Publication Details
- Circulation research, Vol.112(4), pp.698-706
- DOI
- 10.1161/CIRCRESAHA.111.300297
- PMID
- 23410879
- PMCID
- PMC3679175
- NLM abbreviation
- Circ Res
- ISSN
- 0009-7330
- eISSN
- 1524-4571
- Number of pages
- 9
- Grant note
- Howard Hughes Medical Institute U01HL098147 / National Heart, Lung, and Blood Institute (http://data.elsevier.com/vocabulary/SciValFunders/100000050) National Heart, Lung, and Blood Institute (http://data.elsevier.com/vocabulary/SciValFunders/100000050)
- Language
- English
- Date published
- 02/15/2013
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9985034982902771
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