Journal article
Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies
Birth Defects Research Part A: Clinical and Molecular Teratology, Vol.66(6), pp.714-727
10/2007
DOI: 10.1002/bdra.20403
PMID: 17729292
Abstract
BACKGROUND: Classification and analysis of congenital heart defects (CHD) in etiologic studies is particularly challenging because of diversity of cardiac phenotypes and underlying developmental mechanisms. We describe an approach to classification for risk assessment of CHD based on developmental and epidemiologic considerations, and apply it to data from the National Birth Defect Prevention Study (NBDPS). METHODS: The classification system incorporated the three dimensions of cardiac phenotype, cardiac complexity, and extracardiac anomalies. The system was designed to facilitate the assessment of simple isolated defects and common associations. A team with cardiologic expertise applied the system to a large sample from the NBDPS. RESULTS: Of the 4,703 cases of CHDs in the NBDPS with birth years 1997 through 2002, 63.6% were simple, isolated cases. Specific associations of CHDs represented the majority of the remainder. The mapping strategy generated relatively large samples for most cardiac phenotypes and provided enough detail to isolate important subgroups of CHDs that may differ by etiology or mechanism. CONCLUSIONS: Classification of CHDs that considers cardiac and extracardiac phenotypes is practically feasible, and yields manageable groups of well-characterized phenotypes. Although best suited for large studies, this approach to classification and analysis can be a flexible and powerful tool in many types of etiologic studies of heart defects.
Details
- Title: Subtitle
- Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies
- Creators
- Lorenzo D Botto - Division of Medical Genetics, University of Utah, Salt Lake City, UtahAngela E Lin - Genetics Unit, MassGeneral Hospital for Children, Boston, MassachusettsTiffany Riehle-Colarusso - National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GeorgiaSadia Malik - Arkansas Center for Birth Defects and Prevention, Little Rock, ArkansasAdolfo Correa - Genetics Unit, MassGeneral Hospital for Children, Boston, MassachusettsNational Birth Defects Prevention Study
- Contributors
- Paul A Romitti (Contributor) - University of Iowa, Epidemiology
- Resource Type
- Journal article
- Publication Details
- Birth Defects Research Part A: Clinical and Molecular Teratology, Vol.66(6), pp.714-727
- Publisher
- Wiley Subscription Services, Inc., A Wiley Company
- DOI
- 10.1002/bdra.20403
- PMID
- 17729292
- ISSN
- 1542-0752
- eISSN
- 1096-9926
- Number of pages
- 14
- Language
- English
- Date published
- 10/2007
- Academic Unit
- Epidemiology; Biostatistics
- Record Identifier
- 9984214805702771
Metrics
16 Record Views