Congenital heart disease in children with Down syndrome in Afghanistan

  • Abdul Muhib Sharifi kabul medical university
  • Abdul Rashid Mansoor Pediatric Cardiology Department, Kabul Medical University, Afghanistan
  • M. Akbar Ibrahimi Pediatric Cardiology Department, Kabul Medical University, Afghanistan
  • Abdul Wali Pediatric Cardiology Department, Kabul Medical University, Afghanistan
  • Wali Wali Pediatric Cardiology Department, Kabul Medical University, Afghanistan
  • Khesrow Ekram Pediatric Cardiology Department, Kabul Medical University, Afghanistan
Keywords: congenital heart disease; Down syndrome; echocardiography


Background Congenital heart disease (CHD) is frequently cited as the main cause of death in the pediatric Down syndrome (DS) population. The prevalence and spectrum of CHD patterns in DS varies widely worldwide; this variation could be due to sociodemographic, genetic, and/or geographic factors.

Objective To verify the prevalence, pattern, and frequency distribution of CHD in children with Down syndrome.

Methods A three-year retrospective study was conducted in children aged 0-14 years with Down syndrome who underwent echocardiography for possible CHD from January 2014 to December 2016, based on the Pediatric Unit CHD Registry of the Cardiac Research Institute, Kabul Medical University. Clinical, echocardiographic, and outcome data were collected and sorted according to confirmation of the syndrome and echocardiography result.

 Results During the three-year study period, 420 DS patients were identified, 286 (68%) of whom had CHDs. The prevalence of isolated and multiple CHD in the 420 children with DS were 38% (160 patients) and 30% (126 patients), respectively. Ventricular septal defect (23%) and atrial septal defect (16.4%) were the most common isolated defects. The combination of VSD and ASD (19.9%) were the most frequent multiple CHDs. The most common associations of CHD were VSD + ASD (19.9%) and VSD + PDA (9%).   

Conclusion A high prevalence of CHDs was noted in children with Down syndrome. VSD and ASD are the most commonly diagnosed isolated CHDs in our study. ASD + VSD is the most common multiple CHD pairing.  To our knowledge, this is the first extensive study in Afghanistan to demonstrate the pattern and prevalence of CHD associated with Down syndrome.


Smith G, Berg J. Down's anomaly. 2nd ed. Edinburgh and New York: Churchill Livingstone; 1976,18:210-9

Morris JK, Alberman E, Mutton D, Jacobs P. Cytogenetic and epidemiological findings in Down syndrome: England and Wales 1989-2009. Am J Med Genet A. 2012;158A:1151-7. PMid:22438132

Freeman SB, Taft LF, Dooley KJ, Allran K, Sherman SL, Hassold TJ, et al. Population-based study of congenital heart defects in Down syndrome. Am J Med Genet. 1998;80:213-7.<213::AID-AJMG6>3.0.CO;2-8

Nahar R, Kotecha U, Puri RD, Pandey RM, Verma IC. Survival analysis of Down syndrome cohort in a tertiary health care center in India. Indian J Pediatr. 2013;80:118-23. PMid:22832871

Shin M, Kucik JE, Correa A. Causes of death and case fatality rates among infants with down syndrome in metropolitan Atlanta. Birth Defects Res A Clin Mol Teratol. 2007;79:775-80. PMid:17990337

Torfs CP, Christianson RE. Anomalies in Down syndrome individuals in a large population-based registry. Am J Med Genet. 1998;77:431-8.<431::AID-AJMG15>3.0.CO;2-J

Al-Aama JY, Bondagji NS, El-Harouni AA. Congenital heart defects in Down syndrome patients from western Saudi Arabia. Saudi Med J. 2012;33:1211-5. PMid:23147879

Narchi H, Kulaylat N. High incidence of Down's syndrome in infants of diabetic mothers. Arch Dis Child. 1997;77:242-4. PMid:9370905 PMCid:PMC1717320

Hwang BF, Magnus P, Jaakkola JJK. Seasonal variation of birth defects in Norway. Biomedicine. 2013;3:95–101.

Al-Jarallah AS. Down's syndrome and the pattern of congenital heart disease in a community with high parental consanguinity. Med Sci Monit 2009;15:409-412

Lai W, Geva T, Shirali GS, Frommelt PC, Humes RA, Brook MM, et al. Guidelines and Standards for Performance of a Pediatric Echocardiogram: A Report from the Task Force of the Pediatric Council of the American Society of Echocardiography. J Am Soc Echocardiogr 2006;19:1413-1430. PMid:17138024

Ali SK. Cardiac abnormalities of Sudanese patients with Down's syndrome and their short-term outcome. Cardiovasc J Afr. 2009;20:112-5. PMid:19421645

Nisli K, Oner N, Candan S, Kayserili H, Tansel T, Tireli E, et al. Congenital heart disease in children with Down's syndrome: Turkish experience of 13 years. Acta Cardiol. 2008;63:585-9. PMid:19014001

Irving CA, Chaudhari MP. Cardiovascular abnormalities in Down's syndrome: spectrum, management and survival over 22 years. Arch Dis Child. 2012;97:326-30. PMid:21835834

Amark K, Sunnegardh J. The effect of changing attitudes to Down's syndrome in the management of complete atrioventricular septal defects. Arch Dis Child. 1999;81:151-4. PMid:10490525 PMCid:PMC1718042

Freeman SB, Bean LH, Allen EG, Tinker SW, Locke AE, Druschel C, et al. Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project. Genet Med. 2008;10:173-80. PMid:18344706

McElhinney DB, Straka M, Goldmuntz E, Zackai EH. Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome. Am J Med Genet. 2002;113:238-41. PMid:12439890

Venugopalan P, Agarwal AK. Spectrum of congenital heart defects associated with Down Syndrome in high consanguineous Omani population. Indian Pediatr. 2003;40:398-403. PMid:12768040

Elmagrpy Z, Rayani A, Shah A, Habas E, Aburawi EH. Down syndrome and congenital heart disease: why the regional difference as observed in the Libyan experience? Cardiovasc J Afr. 2011;22:306-9. PMid:22159317 PMCid:PMC3721875

El-Gilany A, Yahia S, Shoker M, El-Dahtory F. Cytogenetic and comorbidity profile of Down syndrome in Mansoura University Children's Hospital, Egypt. Indian J Hum Genet. 2011;17:157-63. PMid:22345986 PMCid:PMC3276983

Mokhtar MM, Abdel-Fattah M. Major birth defects among infants with Down syndrome in Alexandria, Egypt (1995-2000): trends and risk factors. East Mediterr Health J. 2001;7:441-51. PMid:12690765

Salih AF. Congenital heart disease in Down syndrome: experience of Kurdistan of Iraq. Duhok Med J. 2011;5:1-6.

Vida VL, Barnoya J, Larrazabal LA, Gaitan G, de Maria Garcia F, Casta-eda AR. Congenital cardiac disease in children with Down's syndrome in Guatemala. Cardiol Young. 2005;15:286-90. PMid:15865831

Narayanan DL, Yesodharan D, Kappanayil M, Kuthiroly S, Thampi MV, Hamza Z, et al. Cardiac spectrum, cytogenetic analysis and thyroid profile of 418 children with Down syndrome from South India: a cross-sectional study. Indian J Pediatr. 2014;81:547-51. PMid:23934063

Ashraf M, Malla R, Chowdhary J, Malla M, Akhter M, Rahman A, et al. Consanguinity and pattern of congenital heart defects in Down syndrome in Kashmir, India. Am J Sci Ind Res. 2010;1:573-7.

Azman BZ, Ankathil R, Siti Mariam I, Suhaida MA, Norhashimah M, Tarmizi AB, et al. Cytogenetic and clinical profile of Down syndrome in Northeast Malaysia. Singapore Med J. 2007;48:550-4. PMid:17538755

Masaki M, Higurashi M, Iijima K, Ishikawa N, Tanaka F, Fujii T, et al. Mortality and survival for Down syndrome in Japan. Am J Hum Genet. 1981;33:629-39. PMid:6455063 PMCid:PMC1685087

Weijerman ME, van Furth AM, van der Mooren M, van Weissenbruch MM, Rammeloo L, Broers CJ, et al. Prevalence of congenital heart defects and persistent pulmonary hypertension of the neonate with Down syndrome. Eur J Pediatr. 2010;169:1195-9. PMid:20411274 PMCid:PMC2926442

Mikkelsen M, Poulsen H, Nielsen KG. Incidence, survival, and mortality in Down syndrome in Denmark. Am J Med Genet Suppl. 1990;7:75-8.

How to Cite
Sharifi A, Mansoor A, Ibrahimi M, Wali A, Wali W, Ekram K. Congenital heart disease in children with Down syndrome in Afghanistan. PI [Internet]. 17Dec.2018 [cited 31Mar.2023];58(6):312-. Available from:
Pediatric Cardiology
Received 2018-10-31
Accepted 2018-12-17
Published 2018-12-17