Spectrum of Congenital Heart Disease in Children with Down's Syndrome


  • Sijad Ur Rehman Department of Pediatrics/GKMC/BKMC/MTI/Swabi.
  • Wahid Ali Department of Pediatrics/HBS Medical College Islamabad.
  • Abid Iqbal Department of Pediatrics/HBS Medical College Islamabad.
  • Romana Bibi Postgraduate Resident Gynea/Obs/KTH Peshawar.




Background: Down syndrome is the most common chromosomal disorder and most common genetic cause of mental retardation. Congenital heart disease (CHD) is an important cause of morbidity and mortality in children with Down's syndrome.
Objective: To determine the frequency and types of congenital heart diseases in children with Down syndrome and to relate it with consanguinity.
Material and Methods: This Cross-sectional study was carried out at Bacha Khan Medical Complex / Gajju Khan Medical College, Swabi, from January 2019-December 2020. Children less than 12 year's age with Down syndrome were enrolled in the study. Echocardiography of all these children was done and presence and type of CHD was noted.
Results: Our study included 95 children with diagnosis of Down syndrome. The mean age was 56.12±41.89 months. 40% were males. Mother's mean age was 33.04±4.2 years. Mothers having age = 35 years old were 30.5%. Parents having consanguineous marriage were 33.7%. The diagnosis of major congenital heart defect was in 37.9%. Out of 36 CHD patients the type of congenital heart lesion was as follows: 36.11% had AVSD, 25% had ASD; 30.5% had VSD; 5.55% had tetralogy of Fallot and 2.78% had PDA. Children with down syndrome with CHD had older mothers <0.05. Mothers with consanguineous marriages had a greater proportion of CHD children; p<0.05.
Conclusion: Approximately 1/3rd Down syndrome children had congenital heart disease. The commonest lesion was AVSD followed by VSD, ASD, tetralogy of Fallot and PDA. Consanguineous marriages are associated with a greater frequency of CHD in Down children.
Keywords: Down syndrome, congenital heart disease, Echocardiography.

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How to Cite

Sijad Ur Rehman, Wahid Ali, Abid Iqbal, Romana Bibi. Spectrum of Congenital Heart Disease in Children with Down’s Syndrome. J Saidu Med Coll Swat [Internet]. 2023 Mar. 10 [cited 2023 Mar. 26];13(1):19-23. Available from: https://jsmc.pk/index.php/jsmc/article/view/752