Conotruncal malformations of the heart are a major category of birth defects. No previous epidemiological studies on these malformations have been carried out in Egypt;therefore our study aimed to describe association...Conotruncal malformations of the heart are a major category of birth defects. No previous epidemiological studies on these malformations have been carried out in Egypt;therefore our study aimed to describe associations with maternal and infant factors in order to identify possible risk factors. Cases (N = 255) were children up to two years of age whose heart malformations were confirmed by echocardiography;they were enrolled at the Cardiology Department of the Pediatric Hospital of Cairo University. Controls (N = 155) were free of congenital heart malformations, matched to the cases by age, and recruited from outpatients of the same hospital. Mothers of cases (97%) and controls (89%) provided consent to participate in an interview about their medical, familial, and occupational histories. Odds ratios (OR) and exact 95% confidence intervals (CI) assessed the magnitude and statistical significance of case-control differences. Cases were divided into two groups based on the presence of d-transposition of the great arteries (TGA): there were 139 with TGA and 116 with normally-related great arteries (NGA). Maternal diabetes prevalence was elevated in both the TGA (OR = 3.4) and NGA (OR = 5.5) subgroups. Several agricultural factors were associated with increased risk: raising animals (for TGA: OR = 2.4, 95% CI 1.2-4.6), raising poultry (for NGA: OR = 1.8, 95% CI 1.1-3.2), and using chemical rodenticides (for all conotruncal cases: OR = 3.2, 95% CI 1.1-13.2). These results are consistent with previous studies of associations of maternal diabetes and pesticide exposure with conotruncal malformations. Further research is warranted to explore such associations and determine avenues for prevention.展开更多
Tetralogy of Fallot （TOF） is the most common form of cyanotic congenital cardiac disease in humans. With recent advances in corrective surgery early lethality from TOF is rare but long-term sequelae, including arrhy...Tetralogy of Fallot （TOF） is the most common form of cyanotic congenital cardiac disease in humans. With recent advances in corrective surgery early lethality from TOF is rare but long-term sequelae, including arrhythmia, ventricular dysfunction and often life-long disability. Now attention has shifted from immediate outcomes to understanding causation. This review summarizes current knowledge regarding the embryonic and molecular mechanisms involved in cardiac development, with particular attention paid to the role of transcription factors and to their potential usefulness in order to clarify the genetic basis of TOF.展开更多
文摘Conotruncal malformations of the heart are a major category of birth defects. No previous epidemiological studies on these malformations have been carried out in Egypt;therefore our study aimed to describe associations with maternal and infant factors in order to identify possible risk factors. Cases (N = 255) were children up to two years of age whose heart malformations were confirmed by echocardiography;they were enrolled at the Cardiology Department of the Pediatric Hospital of Cairo University. Controls (N = 155) were free of congenital heart malformations, matched to the cases by age, and recruited from outpatients of the same hospital. Mothers of cases (97%) and controls (89%) provided consent to participate in an interview about their medical, familial, and occupational histories. Odds ratios (OR) and exact 95% confidence intervals (CI) assessed the magnitude and statistical significance of case-control differences. Cases were divided into two groups based on the presence of d-transposition of the great arteries (TGA): there were 139 with TGA and 116 with normally-related great arteries (NGA). Maternal diabetes prevalence was elevated in both the TGA (OR = 3.4) and NGA (OR = 5.5) subgroups. Several agricultural factors were associated with increased risk: raising animals (for TGA: OR = 2.4, 95% CI 1.2-4.6), raising poultry (for NGA: OR = 1.8, 95% CI 1.1-3.2), and using chemical rodenticides (for all conotruncal cases: OR = 3.2, 95% CI 1.1-13.2). These results are consistent with previous studies of associations of maternal diabetes and pesticide exposure with conotruncal malformations. Further research is warranted to explore such associations and determine avenues for prevention.
基金supported by the Major International Joint Research Project of Ministry of Science and Technology of China(No.2010DFA32660)National Key Technology Research and Development Program of Ministry of Science and Technology of China(2011BAI11B22)National Natural Science Foundation of China(No.81370230)
文摘Tetralogy of Fallot （TOF） is the most common form of cyanotic congenital cardiac disease in humans. With recent advances in corrective surgery early lethality from TOF is rare but long-term sequelae, including arrhythmia, ventricular dysfunction and often life-long disability. Now attention has shifted from immediate outcomes to understanding causation. This review summarizes current knowledge regarding the embryonic and molecular mechanisms involved in cardiac development, with particular attention paid to the role of transcription factors and to their potential usefulness in order to clarify the genetic basis of TOF.
