Background: Etiology of Conotruncal Heart Defects (CTDs) is poorly understood and varies geographically. In Europe, the incidence of Tetralogy of Fallot (TOF), Transposition of great arteries (TGA), and Truncus arteriosus (TA) is 2.8, 3.5, and 0.9 per 10,000 live births, respectively.
Aims: To characterize CTD mortality, morbidity, and the association between maternal characteristics and the incidence of CTD in the population of southern Israel comprising predominantly urban Jewish population (75%) and rural Arab Bedouins (25%).
Methods: We identified 393 CTDs cases among 247,290 births: TOF -235, TGA -113, and TA -45, in Soroka University Medical Center (1991-2011. For statistical analysis we used multivariate logistic regression.
Results: The incidence of TOF, TGA, and TA was 9.5, 5, and 1.8 per 10,000 live births. The 1-year survival of TOF, TGA, and TA was 79.6%, 76.4% and 62.8%, respectively. In a multivariate analysis, Bedouin descent (adjusted odds ratio [aOR] 2.48, p<0.001), maternal age> 35 years (aOR 1.85, p<0.001), and sibling`s CHD (aOR 2.48, p=0.003) were associated with TOF; Bedouin descent (aOR 1.97, p=0.002), sibling`s CHD (aOR 2.37, p<0.001), and Diabetes mellitus (aOR 8.88, p<0.001) with TGA. In a univariate analysis, Bedouin descent (p=0.004) and CHD in siblings (p<0.001), were associated with TA.
Conclusion: Southern Israel has a significantly higher incidence of CTDs than reported worldwide. The higher incidence in Arab-Bedouins and association between siblings’ CHD suggest a genetic component. Genetic counseling and early fetal echocardiograms should be encouraged mainly in the Arab-Bedouin population, which might ultimately reduce the incidence of these severe defects.
