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Cited by 469

The DOI matches its Crossref record; 34 of the 34 references it cites were found in a registry or an index.

Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies

Botto, Lorenzo D., Lin, Angela E., Riehle‐Colarusso, Tiffany, Malik, Sadia, Correa, Adolfo·2007·Birth Defects Research Part A: Clinical and Molecular Teratology

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. Birth Defects Research (Part A), 2007. © 2007 Wiley‐Liss, Inc.

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Metadata

Authors
Botto, L. D., Lin, A. E., Riehle‐Colarusso, T., Malik, S., & Correa, A.
Venue
Birth Defects Research Part A: Clinical and Molecular Teratology
Publisher
Wiley
Published
2007-08-29
Volume
79
Issue
10
Pages
714-727
ISSN
  • 1542-0752 (ISSN-L)
  • 1542-0760
OpenAlex
W2162347038
Cited by
469
References
34
FWCI
8.37
Type
journal article
Language
en
Open access
closed

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CoChat. (2026). Citation check: Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies. https://app.cochat.ai/papers/10.1002/bdra.20403
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Botto, L. D., Lin, A. E., Riehle‐Colarusso, T., Malik, S., & Correa, A. (2007). Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies. Birth Defects Research Part A: Clinical and Molecular Teratology. https://doi.org/10.1002/bdra.20403

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