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Prevalence of congenital heart diseases in children with Down syndrome in Mansoura, Egypt: a retrospective descriptive study

Abdel-Hady El-Gilany,a Sohier Yahia,b Yahya Wahbab 

From the aDepartment of Public Health and bDepartment of Pediatrics (Genetic Unit), Faculty of Medicine, Mansoura University, Mansoura, Egypt 

How to cite this article:

El-Gilany AH, Yahia S, Wahba Y. Prevalence of congenital heart diseases in children with Down syndrome in Mansoura, Egypt: a retrospective descriptive study. Ann Saudi Med 2017; 37(5): 386-392.


BACKGROUND: The pattern and risk factors for congenital heart diseases (CHD) in children with Down syndrome (DS) vary over time. 


OBJECTIVES: To update knowledge of the prevalence, types, trends and associated factors for CHD in children with DS in the Egyptian Delta. 


DESIGN: A retrospective hospital record-based descriptive study. 


SETTING: A tertiary care center in Mansoura, Egypt during a period of 14 years from 2003 up to 2016. 


PATIENTS AND METHODS: We studied children with genetically proven DS. Relevant sociodemographic factors, medical history, clinical examination, karyotype and echocardiographic data were statistically analyzed. 


MAIN OUTCOME MEASURES: Prevalence, types and risk factors of CHD in DS. 


RESULTS: The prevalence of overall, isolated and multiple CHD in 1720 children with DS were 36.9%, 29% and 8%, respectively. Isolated defects accounted for 78.4% of all CHD. Ventricular septal defect, atrioventricular septal defect and atrial septal defect were the most frequent isolated defects. There was a downward trend in the prevalence of overall CHD (from 56.2% to 25.0%) and isolated CHD (from 56.2% to 19.8%). The logistic regression model predicted 65.7% of CHD and revealed that passive maternal smoking, lack of folic acid/multivitamin supplementation and parental consanguinity were the independent predictors of CHD in children with DS with adjusted odds ratios of 1.9, 1.8 and 1.9, respectively. 


CONCLUSION: More than one-third of children with DS have CHD with ventricular septal defect, which is the most common. Avoidance of passive maternal smoking and consanguineous marriage together with maternal folic acid supplementation could contribute to further reduction of CHD in children with DS.


LIMITATIONS: Single-center study and retrospective. 

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