Article Title: Cardiac Malformations in a Preterm Neonate with Down Syndrome: A Case Report
Volume Number: 1
Issue: 1
Year: 1
Article Type: Case Report
Author Names: Rukma R. Kafle¹*, Rakshya A. Kandel¹, Rupak Subedi², Chandan Shah³, Sakil Rahman³
Page Number: 16-22
Affiliations:
¹Department of Emergency Medicine, Scheer Memorial Adventist Hospital, Nepal;
²Department of Medicine, Madan Bhandari Academy of Health Sciences, Nepal;
³Department of Emergency Medicine, College of Medical Sciences, Nepal;
*Correspondence: Dr. Rukma R. Kafle, Department of Emergency Medicine, Scheer Memorial Adventist Hospital, Nepal; Email: rukmakafle56@gmail.com
Keywords: Congenital Anomaly; Chromosomal Abnormality; Congenital Heart Disease; Down Syndrome; Pediatrics; Preterm Neonate
Abstract: Down syndrome, also known as trisomy 21, is a chromosomal abnormality characterized by the presence of an extra chromosome 21. It typically manifests with characteristic facial features, developmental delays, cardiac malformations, and various congenital anomalies. Congenital heart disease (CHD), with atrioventricular septal defect being the most common, is a common condition in patients with Down syndrome, and it presents in up to 50% people with Down syndrome. While Down syndrome is commonly diagnosed in newborns, its occurrence in preterm neonates is relatively rare. Down syndrome and congenital heart disease have a significantly lower average life expectancy, and their occurrence in preterm neonates further complicates the scenario. Here, we present a case of Down syndrome with cardiac malformations identified in a preterm neonate and discuss the challenges in diagnosis, management, and long-term care associated with this condition.
References:
1. Patterson D. Molecular genetic analysis of Down syndrome. Hum Genet. 2009;126(1):195–214. doi:10.1007/s00439-009-0696-8
2. Gardiner K, Herault Y, Lott IT, Antonarakis SE, Reeves RH, Dierssen M. Down syndrome: from understanding the neurobiology to therapy. J Neurosci. 2010;30(45):14943–5. doi:10.1523/JNEUROSCI.3728-10.2010
3. Ataman AD, Vatanoglu-Lutz EE, Yildirim G. Medicine in stamps: history of Down syndrome through philately. J Turk Ger Gynecol Assoc. 2012;13(4):267–9. doi:10.5152/jtgga.2012.43
4. Mai CT, Isenburg JL, Canfield MA, et al. National population‐based estimates for major birth defects, 2010–2014. Birth Defects Res. 2019;111(18):1420–35. doi:10.1002/bdr2.1589
5. Antonarakis SE, Skotko BG, Rafii MS, et al. Down syndrome. Nat Rev Dis Primers. 2020;6(1):9. doi:10.1038/s41572-019-0143-7
6. Weijerman ME, Van Furth AM, Vonk Noordegraaf A, Van Wouwe JP, Broers CJM, Gemke RJBJ. Prevalence, neonatal characteristics, and first-year mortality of Down syndrome: a national study. J Pediatr. 2008;152(1):15–9. doi:10.1016/j.jpeds.2007.09.045
7. Irving C, Basu A, Richmond S, Burn J, Wren C. Twenty-year trends in prevalence and survival of Down syndrome. Eur J Hum Genet. 2008;16(11):1336–40. Available from: https://www.ncbi.nlm.nih.gov/pubmed/18596694
8. Rondal AJ. Down syndrome: A curative prospect? AIMS Neurosci. 2020;7(2):168–93. doi:10.3934/Neuroscience.2020012
9. Hopper RK, Abman SH, Elia EG, et al. Pulmonary hypertension in children with Down syndrome: results from the Pediatric Pulmonary Hypertension Network Registry. J Pediatr. 2023;252:131–40. doi:10.1016/j.jpeds.2022.08.027
10. Quinn JA, Munoz FM, Gonik B, et al. Preterm birth: case definition & guidelines for data collection, analysis, and presentation of immunization safety data. Vaccine. 2016;34(49):6047–56. doi:10.1016/j.vaccine.2016.03.045
11. Institute of Medicine (US) Committee on Understanding Premature Birth and Assuring Healthy Outcomes. Preterm birth: causes, consequences, and prevention. Washington (DC): National Academies Press; 2007. doi:10.17226/11622
12. Machogu E, Gaston B. Respiratory distress in the newborn with primary ciliary dyskinesia. Children (Basel). 2021;8(2):153. doi:10.3390/children8020153
13. Kong MW, Li YJ, Li J, Pei ZY, Xie YY, He GX. Down syndrome child with multiple heart diseases: a case report. World J Cardiol. 2023;15(11):615–22. doi:10.4330/wjc.v15.i11.615
14. 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(6):306–9. doi:10.5830/CVJA2010-072
15. Freeman SB, Taft LF, Dooley KJ, et al. Population-based study of congenital heart defects in Down syndrome. Am J Med Genet. 1998;80(3):213–7. doi:10.1002/(SICI)1096-8628(19981116)80:33.0.CO;2-8
16. 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):386–92. doi:10.5144/0256-4947.2017.386
17. Al-Hay AA, MacNeill SJ, Yacoub M, Shore DF, Shinebourne EA. Complete atrioventricular septal defect, Down syndrome, and surgical outcome: risk factors. Ann Thorac Surg. 2003;75(2):412–21. Available from: https://pubmed.ncbi.nlm.nih.gov/12607648/
18. Vis JC, Duffels MGJ, Winter MM, Weijerman ME, Cobben JM, Huisman SA, et al. Down syndrome: a cardiovascular perspective. J Intellect Disabil Res. 2009;53(5):419–25.
19. Weijerman ME, van Furth AM, Vonk Noordegraaf A, van Wouwe JP, Broers CJM, Gemke RJBJ. Prevalence, neonatal characteristics, and first-year mortality of Down syndrome: a national study. J Pediatr. 2008;152(1):15–9. Available from: https://www.ncbi.nlm.nih.gov/pubmed/18154890