Original Article

Is Down Syndrome Related to Pulmonary Arterial Hypertension? A Comparative Study

Abstract

Down syndrome (DS) is a genetic impairment associated with comorbidities such as Congenital Heart Disease (CHD). Pulmonary Arterial Hypertension (PAH) is a complication of CHD in most patients. Due to insufficient documents about the prevalence of PAH in DS with CHDs compared to non-DS (NDS)+CHD patients, this study aimed to compare the prevalence of PAH between DS-CHD and NDS-CHD patients. This is a cross-sectional study conducted on DS-CHD patients referred to the Pediatric and Congenital Cardiology Division at Imam Reza training hospital in Mashhad, Iran, between April 2015 and February 2016. The comparison group included NDS-CHD children matched in terms of age and gender. A comprehensive Echocardiography was run for all patients to determine the types of CHD and pulmonary arterial pressure. Seventy-seven patients were enrolled in the study (47 in the DS-CHD group and 30 in the NDS-CHD group). 48.9% of the DS-CHD patients and 23.3% of the NDS-CHD group developed PAH, which revealed a significantly higher rate of PH among DS-CHD patients (P=0.025). Our findings denote a higher prevalence of PAH among DS-CHD patients compared to NDS-CHD patients. Such an observation is a meaningful warning for DS patients to take early necessary medical or corrective therapies for CHD in order to prevent complications and irreversible pulmonary vascular disease.

1. Bernstein D. Epidemiology and Genetic Basis of Congenital Heart Disease. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia: Elsevier, 2016.
2. de Graaf G, Buckley F, Skotko BG. Estimation of the number of people with Down syndrome in the United States. Genet Med 2017;19:439-47.
3. Korlimarla A, Hart SJ, Spiridigliozzi GA, Kishnani PS. Down Syndrome. In: Carey JC, Battaglia A, Viskochil D, Cassidy SB, eds. Cassidy and Allanson's Management of Genetic Syndromes. 4th Edition. New York: John Wiley and Sons, 2021.
4. Martin T, Smith A, Breatnach CR, Kent E, Shanahan I, Boyle M, et al. Infants Born with Down Syndrome: Burden of Disease in the Early Neonatal Period. J Pediatr 2018;193:21-6.
5. Santoro SL, Steffensen EH. Congenital heart disease in Down syndrome – A review of temporal changes. J Congenit Cardiol 2021;5:1.
6. Duru CO, Ige OO, Okpokowuruk FS, Daniels QO, Udo PA, Megbelayin F, et al. Congenital heart disease and associated comorbidities among children with Down syndrome in the Niger Delta region of Nigeria. J Med Trop 2020;22:46-50.
7. Alhuzaimi AN, Alotaibi NM, Alsuhaibani GI, Alanazi RK, Temsah MH. Congenital Heart Defect and Pulmonary Hypertension in Children WithDown Syndrome: Clinical Profile Over Two Decades. Cureus 2021;13:e13212.
8. Abman SH, Galambos C. Pediatric Pulmonary Hypertension on the World Stage: Do We Need Separate Neonatal Guidelines? Adv Pulm Hypertens 2019;18:92-6.
9. Bush D, Galambos C, Ivy DD. Pulmonary hypertension in children with Down syndrome. Pediatr Pulmonol 2020;56.
10. Bush D, Galambos C, Ivy DD, Abman SH, Wolter-Warmerdam K, Hickey F. Clinical characteristics and risk factors for developing pulmonary hypertension in children with Down syndrome. J Pediatr 2018;202:212-9.e2.
11. Pfitzer C, Helm PC, Rosenthal LM, Berger F, Bauer UMM, Schmitt KRL. Dynamics in prevalence of Down syndrome in children with congenital heart disease. Eur J Pediatr 2018;177:107-15.
12. Sharma MSK, Sondhi V, Devgan A. A study to determine the prevalence of pulmonary arterial hypertension in children with Down syndrome and congenital heart disease. Med J Armed Forces India 2013;69:241-5.
13. Hosokawa S, Vanderpool RR, Ishii T, Nishiyama M, Doi S. What Causes Pulmonary Arterial Hypertension in Down Syndrome with Congenital Heart Disease? Circ J 2018;82:1513-4.
14. Ivy D, Benjamin FS. Update on pediatric pulmonary arterial hypertension. Curr Opin Cardiol 2021;36:67-79.
15. Bush D, Wolter-Warmerdam K, Wagner BD, Galambos C, Ivy D, Abman SH, et al. Angiogenic profile identifies pulmonary hypertension in children with Down syndrome. Pulm Circ. 2019;9:2045894019866549.
16. Flanders L, Tulloh R. Cardiac problems in Down syndrome. Pediatr Child Health 2011;21:25-31.
17. Mourato FA, Villachan LR, Mattos Sda S. Prevalence and profile of congenital heart disease and pulmonary hypertension in Down syndrome in a pediatric cardiology service. Rev Paul Pediatr 2014;32:159-63.
18. Alsuwayfee KI, Ailbu-Dawlah ME, Mohammed QN. Congenital heart diseases and pulmonary hypertension among Down syndrome pediatric patients. Ann Coll Med Mosul 2020;42:50-6.
19. Espinola-Zavaleta N, Soto ME, Romero-Gonzalez A, Gómez-Puente Ldel C, Muñoz-Castellanos L, Gopal AS, et al. Prevalence of Congenital Heart Disease and Pulmonary Hypertension in Down's Syndrome: An Echocardiographic Study. J Cardiovasc Ultrasound 2015;23:72-7.
20. Vazquez-Antona CA, Buendia CLA, Vargas-Barron J. Pulmonary hypertension in children with Down’s syndrome and congenital heart disease. Is it really more severe? Arch Cardiol Mex 2006;76:16-27.
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IssueVol 59, No 5 (2021) QRcode
SectionOriginal Article(s)
DOI https://doi.org/10.18502/acta.v59i5.6662
Keywords
Congenital heart disease Down syndrome Pulmonary arterial hypertension
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Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
How to Cite
1.
Doostparast Torshizi G, Gholami M, Alizadeh B. Is Down Syndrome Related to Pulmonary Arterial Hypertension? A Comparative Study. Acta Med Iran. 2021;59(5):280-284.