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The epidemiology of cardiovascular defects, Part 2: A study based on data from three large registries of congenital malformations

Harris, John LU ; Francannet, C; Pradat, P and Robert, E (2003) In Pediatric Cardiology 24(3). p.222-235
Abstract
There were three objectives of this study: to investigate possible specificity in the association between specific cardiac defects and chromosomal anomalies; to evaluate ways of categorizing cardiac defects into larger groups with epidemiological similarities that could indicate similarities in etiology or pathogenesis; and to analyze the relationship between specific cardiac defects and diabetes. We pooled data on infants (aged I year or younger) with congenital cardiovascular defects from three large birth defect registries in California, Sweden, and France. The registries in Sweden and France obtained data through reporting from various sources; in California, medical records were reviewed. For severe congenital heart defects, the... (More)
There were three objectives of this study: to investigate possible specificity in the association between specific cardiac defects and chromosomal anomalies; to evaluate ways of categorizing cardiac defects into larger groups with epidemiological similarities that could indicate similarities in etiology or pathogenesis; and to analyze the relationship between specific cardiac defects and diabetes. We pooled data on infants (aged I year or younger) with congenital cardiovascular defects from three large birth defect registries in California, Sweden, and France. The registries in Sweden and France obtained data through reporting from various sources; in California, medical records were reviewed. For severe congenital heart defects, the percentage of infants with identified chromosomal anomalies varied between 0.9% for d-TGV to 68.4% for ECD. In general, specific cardiac conditions have different risk factors. For example, conotruncal defects have been traditionally grouped, but the data presented in this paper indicates more differences for risk factors for the components of conotruncal defects: tetralogy of Fallot, d-TGV, common truncus, and DORV. In general, we suggest the strategy of "splitting" rather than "Jumping" when searching for specific genetic factors and/or teratogens. Adequate analysis thus requires large registries or collaboration among registries. The findings did not support constellations between mothers' diabetes and specific defects. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
congenital malformations, birth defects, cardiovascular defects, epidemiology
in
Pediatric Cardiology
volume
24
issue
3
pages
222 - 235
publisher
Springer
external identifiers
  • wos:000183286400003
  • scopus:0043246535
ISSN
0172-0643
DOI
language
English
LU publication?
yes
id
1d1dbdc5-65d9-40fa-aa86-dc901860d6af (old id 309531)
date added to LUP
2007-09-13 07:31:05
date last changed
2018-05-29 11:08:44
@article{1d1dbdc5-65d9-40fa-aa86-dc901860d6af,
  abstract     = {There were three objectives of this study: to investigate possible specificity in the association between specific cardiac defects and chromosomal anomalies; to evaluate ways of categorizing cardiac defects into larger groups with epidemiological similarities that could indicate similarities in etiology or pathogenesis; and to analyze the relationship between specific cardiac defects and diabetes. We pooled data on infants (aged I year or younger) with congenital cardiovascular defects from three large birth defect registries in California, Sweden, and France. The registries in Sweden and France obtained data through reporting from various sources; in California, medical records were reviewed. For severe congenital heart defects, the percentage of infants with identified chromosomal anomalies varied between 0.9% for d-TGV to 68.4% for ECD. In general, specific cardiac conditions have different risk factors. For example, conotruncal defects have been traditionally grouped, but the data presented in this paper indicates more differences for risk factors for the components of conotruncal defects: tetralogy of Fallot, d-TGV, common truncus, and DORV. In general, we suggest the strategy of "splitting" rather than "Jumping" when searching for specific genetic factors and/or teratogens. Adequate analysis thus requires large registries or collaboration among registries. The findings did not support constellations between mothers' diabetes and specific defects.},
  author       = {Harris, John and Francannet, C and Pradat, P and Robert, E},
  issn         = {0172-0643},
  keyword      = {congenital malformations,birth defects,cardiovascular defects,epidemiology},
  language     = {eng},
  number       = {3},
  pages        = {222--235},
  publisher    = {Springer},
  series       = {Pediatric Cardiology},
  title        = {The epidemiology of cardiovascular defects, Part 2: A study based on data from three large registries of congenital malformations},
  url          = {http://dx.doi.org/},
  volume       = {24},
  year         = {2003},
}