Abstract
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.
Highlights
Congenital cardiovascular malformations (CCVM) are defects of the heart that are present at birth
Several agricultural factors were associated with increased risk: raising animals, raising poultry, and using chemical rodenticides
A total of 255 infants with conotruncal heart malformations and 155 controls were enrolled in the study and analyzed for statistical associations with potential risk factors (Figure 1)
Summary
Congenital cardiovascular malformations (CCVM) are defects of the heart that are present at birth They are among the most prevalent structural birth defects and are the leading cause of death among infants with birth defects, accounting for nearly one third of such deaths [1]. Conotruncal heart malformations in particular are structural abnormalities of the outflow tract of the heart, encompassing a wide array of phenotypes, the most prevalent of which are tetralogy of Fallot (TOF) and transposition of the great arteries (TGA). They are potentially life-threatening conditions, often requiring surgical intervention [2]. The group of outflow tract defects with normally related great arteries (NGA) included TOF, OPEN ACCESS
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