Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies
Identifieur interne : 007461 ( Main/Exploration ); précédent : 007460; suivant : 007462Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies
Auteurs : Lorenzo D. Botto [États-Unis] ; Angela E. Lin [États-Unis] ; Tiffany Riehle-Colarusso [Géorgie (pays)] ; Sadia Malik [États-Unis] ; Adolfo Correa [États-Unis]Source :
- Birth Defects Research Part A: Clinical and Molecular Teratology [ 1542-0752 ] ; 2007-10.
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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DOI: 10.1002/bdra.20403
Affiliations:
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<ref type="note" target="#fn2"></ref></title><author><name sortKey="Botto, Lorenzo D" sort="Botto, Lorenzo D" uniqKey="Botto L" first="Lorenzo D." last="Botto">Lorenzo D. Botto</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Utah</region></placeName><wicri:cityArea>Division of Medical Genetics, University of Utah, Salt Lake City</wicri:cityArea></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Utah</region></placeName><wicri:cityArea>Utah Birth Defect Network, Utah Department of Health, Salt Lake City</wicri:cityArea></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Utah</region></placeName><wicri:cityArea>Dept. of Pediatrics, Division of Medical Genetics, University of Utah, Room 2C412 SOM, 50 North Medical Dr., Salt Lake City</wicri:cityArea></affiliation></author><author><name sortKey="Lin, Angela E" sort="Lin, Angela E" uniqKey="Lin A" first="Angela E." last="Lin">Angela E. Lin</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Genetics Unit, MassGeneral Hospital for Children, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Riehle Olarusso, Tiffany" sort="Riehle Olarusso, Tiffany" uniqKey="Riehle Olarusso T" first="Tiffany" last="Riehle-Colarusso">Tiffany Riehle-Colarusso</name><affiliation wicri:level="1"><country xml:lang="fr">Géorgie (pays)</country><wicri:regionArea>National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta</wicri:regionArea><wicri:noRegion>Atlanta</wicri:noRegion></affiliation></author><author><name sortKey="Malik, Sadia" sort="Malik, Sadia" uniqKey="Malik S" first="Sadia" last="Malik">Sadia Malik</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Arkansas</region></placeName><wicri:cityArea>Arkansas Center for Birth Defects and Prevention, Little Rock</wicri:cityArea></affiliation></author><author><name sortKey="Correa, Adolfo" sort="Correa, Adolfo" uniqKey="Correa A" first="Adolfo" last="Correa">Adolfo Correa</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Genetics Unit, MassGeneral Hospital for Children, Boston</wicri:cityArea></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Birth Defects Research Part A: Clinical and Molecular Teratology</title><title level="j" type="alt">BIRTH DEFECTS RESEARCH PART A: CLINICAL AND MOLECULAR TERATOLOGY</title><idno type="ISSN">1542-0752</idno><idno type="eISSN">1542-0760</idno><imprint><biblScope unit="vol">79</biblScope><biblScope unit="issue">10</biblScope><biblScope unit="page" from="714">714</biblScope><biblScope unit="page" to="727">727</biblScope><biblScope unit="page-count">14</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-10">2007-10</date></imprint><idno type="ISSN">1542-0752</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1542-0752</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="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.</div></front></TEI><affiliations><list><country><li>Géorgie (pays)</li><li>États-Unis</li></country><region><li>Arkansas</li><li>Massachusetts</li><li>Utah</li></region></list><tree><country name="États-Unis"><region name="Utah"><name sortKey="Botto, Lorenzo D" sort="Botto, Lorenzo D" uniqKey="Botto L" first="Lorenzo D." last="Botto">Lorenzo D. Botto</name></region><name sortKey="Botto, Lorenzo D" sort="Botto, Lorenzo D" uniqKey="Botto L" first="Lorenzo D." last="Botto">Lorenzo D. Botto</name><name sortKey="Botto, Lorenzo D" sort="Botto, Lorenzo D" uniqKey="Botto L" first="Lorenzo D." last="Botto">Lorenzo D. Botto</name><name sortKey="Correa, Adolfo" sort="Correa, Adolfo" uniqKey="Correa A" first="Adolfo" last="Correa">Adolfo Correa</name><name sortKey="Lin, Angela E" sort="Lin, Angela E" uniqKey="Lin A" first="Angela E." last="Lin">Angela E. Lin</name><name sortKey="Malik, Sadia" sort="Malik, Sadia" uniqKey="Malik S" first="Sadia" last="Malik">Sadia Malik</name></country><country name="Géorgie (pays)"><noRegion><name sortKey="Riehle Olarusso, Tiffany" sort="Riehle Olarusso, Tiffany" uniqKey="Riehle Olarusso T" first="Tiffany" last="Riehle-Colarusso">Tiffany Riehle-Colarusso</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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