Delayed diagnosis of congenital heart disease: clinical, social, and health system implications in middle-income countries (A literature review)

Authors

  • D.G. Bolatova South Kazakhstan medical academy
  • K.S. Kemelbekov
  • Y.N. Zhanikulov
  • A.M. Dossanova

DOI:

https://doi.org/10.37800/RM.2.2026.722

Keywords:

congenital heart disease , early diagnosis, health services accessibility, socioeconomic factors

Abstract

Relevance: Delayed diagnosis of congenital heart disease remains a significant challenge that affects clinical outcomes and contributes to long-term socioeconomic burden, particularly in middle-income countries. Although prenatal and neonatal screening technologies have improved, significant differences in early detection persist across healthcare systems.

This study aimed to explore the diagnostic and systemic factors associated with delayed detection of congenital heart disease and to examine the resulting clinical, socioeconomic, and demographic consequences in middle-income settings.

Materials and Methods: A literature search was performed in PubMed and Scopus, with additional identification of open-access studies through the Directory of Open Access Journals. The search covered publications from January 2020 to December 2025. Original studies and systematic reviews addressing screening practices, institutional organization, geographic accessibility of services, financial mechanisms, and long-term outcomes were considered. The available evidence was reviewed and summarized using a narrative synthesis approach.

Results: Delayed diagnosis was commonly linked to institutional and organizational challenges within healthcare systems. These included uneven implementation of neonatal screening, differences in prenatal detection rates, shortages of specialized personnel, fragmented referral pathways, and regional disparities in access to tertiary care. Sociodemographic factors such as parental education, household income, and insurance coverage also influenced the timing of diagnosis. Late detection was frequently associated with more severe clinical presentation, greater healthcare resource use, increased mortality risk, and long-term disability. At the population level, these processes contribute to productivity losses and widen existing health inequalities.

Conclusions: Delayed diagnosis of congenital heart disease should be viewed as a systemic issue reflecting the structure and functioning of healthcare delivery. Reducing diagnostic delays may help limit disease severity, prevent long-term disability, and lessen the broader demographic and economic burden in middle-income countries.

References

1. Ryota Ochiai, Ju Ryoung Moon, Hsiao-Ling Yang. Lifelong care for patients with congenital heart disease in Asia. Eur J Cardiovasc Nurs. 2023; 22 (6): e49–e50.

https://doi.org/10.1093/eurjcn/zvad052

2. GBD 2017 Congenital Heart Disease Collaborators. Global, regional, and national burden of congenital heart disease, 1990-2017: a systematic analysis for the Global Burden of Disease Study 2017. Lancet Child Adolesc Health. 2020 Mar;4(3):185-200.

https://doi.org/10.1016/S2352-4642(19)30402-X

Erratum in: Lancet Child Adolesc Health. 2020 Mar;4(3):e6.

https://doi.org/10.1016/S2352-4642(20)30031-6

3. Бюро национальной статистики Агентства стратегического планирования и реформ Республики Казахстан. Численность населения Республики Казахстан по отдельным этносам и возрастным группам (на начало 2025г.) [Интернет]. Stat.gov.kz. 2025 [дата доступа: 23.02.2026]. Адрес доступа:

Bureau of National Statistics of the Agency for Strategic Planning and Reforms of the Republic of Kazakhstan. Population of the Republic of Kazakhstan by selected ethnic groups and age groups (as of the beginning of 2025) [Internet]. Stat.gov.kz. 2025 [accessed on: Feb 23 2026]. Russian. Available from:

https://stat.gov.kz/ru/industries/social-statistics/demography/publications/281562/

4. Gusmanov A, Zhakhina G, Yerdessov S, Sakko Y, Mussina K, Alimbayev A, Syssoyev D, Sarria-Santamera A, Gaipov A. Review of the research databases on population-based Registries of Unified electronic Healthcare system of Kazakhstan (UNEHS): Possibilities and limitations for epidemiological research and Real-World Evidence. Int J Med Inform. 2023 Feb;170:104950. https://doi.org/10.1016/j.ijmedinf.2022.104950

5. Syssoyev D, Seitkamzin A, Lim N, Mussina K, Poddighe D, Gaipov A, Galiyeva D. Epidemiology of Congenital Heart Disease in Kazakhstan: Data from the Unified National Electronic Healthcare System 2014–2021. J Clin Med Kaz. 2024; 21(3): 49–55.

https://doi.org/10.23950/jcmk/14683

6. Balmagambetova GN, Nugmanova ZhM, Lisogor SA, Shamshetova AB, Seitova AA, Tasanova ZhM, Nassenova AK. Current problems of theoretical and clinical medicine [in Russian]. Aktual’nye problemy teoreticheskoi i klinicheskoi meditsiny. 2022;(1(35)). https://doi.org/10.24412/2790-1289-2022-1-4956

7. Murni IK, Wirawan MT, Patmasari L, Sativa ER, Arafuri N, Nugroho S, Noormanto. Delayed diagnosis in children with congenital heart disease: a mixed-method study. BMC Pediatr. 2021 Apr 21;21(1):191.

https://doi.org/10.1186/s12887-021-02667-3

8. Edelson JB, Rossano JW, Griffis H, Quarshie WO, Ravishankar C, O’Connor MJ, Mascio CE, Mercer-Rosa L, Glatz AC, Lin KY. Resource Use and Outcomes of Pediatric Congenital Heart Disease Admissions: 2003 to 2016. J Am Heart Assoc. 2021 Feb 16;10(4):e018286. https://doi.org/10.1161/JAHA.120.018286

9. Mat Bah MN, Sapian MH, Alias EY. Birth prevalence and late diagnosis of critical congenital heart disease: A population-based study from a middle-income country. Ann Pediatr Cardiol. 2020 Oct-Dec;13(4):320-326.

https://doi.org/10.4103/apc.APC_35_20

10. Iqhrammullah M, Rampengan DD, Amri I, Lastri S, Rampengan SH, Prakoso R, Habiburrahman M. Monetary Valuation of Congenital Heart Disease in Indonesia: Economic Modeling Study. JMIR Pediatr Parent. 2025 Nov 19;8:e80696.

https://doi.org/10.2196/80696

11. Cao Y, Huang R, Kong R, Li H, Zhang H, Li Y, Liang L, Xiong D, Han S, Zhou L, Guo J, Dai G, Meng M, Lou H, Hou Z, Jiang L. Prevalence and risk factors for congenital heart defects among children in the Multi-Ethnic Yunnan Region of China. Transl Pediatr. 2022 Jun;11(6):813-824. https://doi.org/10.21037/tp-21-371

12. Shetty N, Mantri S, Agarwal S, Potdukhe A, Wanjari MB, Taksande AB, Yelne S. Unraveling the Challenges: A Critical Review of Congenital Malformations in Low Socioeconomic Strata of Developing Countries. Cureus. 2023 Jul 12;15(7):e41800.

https://doi.org/10.7759/cureus.41800

13. Downing KF, Oster ME, Klewer SE, Rose CE, Nembhard WN, Andrews JG, Farr SL. Disability Among Young Adults With Congenital Heart Defects: Congenital Heart Survey to Recognize Outcomes, Needs, and Well-Being 2016-2019. J Am Heart Assoc. 2021 Nov 2;10(21):e022440. https://doi.org/10.1161/JAHA.121.022440

14. Murni IK, Wibowo T, Arafuri N, Oktaria V, Dinarti LK, Panditatwa D, Patmasari L, Noormanto N, Nugroho S. Feasibility of screening for critical congenital heart disease using pulse oximetry in Indonesia. BMC Pediatr. 2022 Jun 27;22(1):369.

https://doi.org/10.1186/s12887-022-03404-0

15. Ciulpan A, Lacatușu A, Pop LL, Paul C, Lungeanu D, Iacob D, Bernad BC, Lascu A, Maghet E, Arnautu DA, Bernad ES. Incidence and Antenatal Detection of Congenital Heart Malformations-Data from a Tertiary Obstetric Romanian Center. Diagnostics (Basel). 2024 Aug 1;14(15):1659.: https://doi.org/10.3390/diagnostics14151659

16. Carvalho JS, Axt-Fliedner R, Chaoui R, Copel JA, Cuneo BF, Goff D, Gordin Kopylov L, Hecher K, Lee W, Moon-Grady AJ, Mousa HA, Munoz H, Paladini D, Prefumo F, Quarello E, Rychik J, Tutschek B, Wiechec M, Yagel S. ISUOG Practice Guidelines (updated): fetal cardiac screening. Ultrasound Obstet Gynecol. 2023 Jun;61(6):788-803.

https://doi.org/10.1002/uog.26224

17. Mattia D, Matney C, Loeb S, Neale M, Lindblade C, Scheller McLaughlin E, Rao R. Prenatal detection of congenital heart disease: Recent experience across the state of Arizona. Prenat Diagn. 2023 Aug;43(9):1166-1175.

https://doi.org/10.1002/pd.6409

18. Moldakhanova Z, Rakhimzhanova R, Dautov T, Bastarbekova L, Kaliyev B. Interrupted aortic arch in children: An in-depth look at etiology, embryological mechanisms, and morphology (a literature review). Reprod Med (Centr Asia) [Internet]. 2023 Oct. 1;(3(56):80-5. https://doi.org/10.37800/RM.3.2023.80-85

19. Cody F, Franklin O, Mc Cay N, Molphy Z, Dicker P, Breathnach FM. Critical congenital heart disease: contemporary prenatal screening performance and outcomes in a multi-centre perinatology service. BMC Pregnancy Childbirth. 2024 Feb 24;24(1):163. https://doi.org/10.1186/s12884-024-06350-0

20. Vervoort D, Jin H, Edwin F, Kumar RK, Malik M, Tapaua N, Verstappen A, Hasan BS. Global Access to Comprehensive Care for Paediatric and Congenital Heart Disease. CJC Pediatr Congenit Heart Dis. 2023 Oct 10;2(6Part B):453-463.

https://doi.org/10.1016/j.cjcpc.2023.10.001

21. Kaltman JR, Burns KM, Pearson GD, Goff DC, Evans F. Disparities in Congenital Heart Disease Mortality Based on Proximity to a Specialized Pediatric Cardiac Center. Circulation. 2020 Mar 24;141(12):1034-1036.

https://doi.org/10.1161/CIRCULATIONAHA.119.043392

22. Lopez KN, Baker-Smith C, Flores G, Gurvitz M, Karamlou T, Nunez Gallegos F, Pasquali S, Patel A, Peterson JK, Salemi JL, Yancy C, Peyvandi S; American Heart Association Congenital Cardiac Defects Committee of the Council on Lifelong Congenital Heart Disease and Heart Health in the Young; Council on Epidemiology and Prevention; and Council on Lifestyle and Cardiometabolic Health. Addressing Social Determinants of Health and Mitigating Health Disparities Across the Lifespan in Congenital Heart Disease: A Scientific Statement From the American Heart Association. J Am Heart Assoc. 2022 Apr 19;11(8):e025358. doi: 10.1161/JAHA.122.025358. Epub 2022 Apr 7. Erratum in: J Am Heart Assoc. 2022 Apr 19;11(8):e020758. https://doi.org/10.1161/JAHA.122.020758

23. Bolatova DG, Kemelbekov KS, Umarova AM, Anartaeva MU, Zhanikulov YN, Dossanova AM. Epidemiological Analysis of Congenital Heart Defects: Trends and Outcomes from 2019 to 2023. J CLIN MED KAZ. 2025;22(3):73-8.

https://doi.org/10.23950/jcmk/16423

24. Chowdhury D, Elliott PA, Asaki SY, Amdani S, Nguyen QT, Ronai C, Tierney S, Levy VY, Puri K, Altman CA, Johnson JN, Glickstein JS. Addressing Disparities in Pediatric Congenital Heart Disease: A Call for Equitable Health Care. J Am Heart Assoc. 2024 Jul 2;13(13):e032415. https://doi.org/10.1161/JAHA.123.032415

Downloads

Published

01.07.2026

How to Cite

Bolatova, D., Kemelbekov, K., Zhanikulov, Y., & Dossanova, A. (2026). Delayed diagnosis of congenital heart disease: clinical, social, and health system implications in middle-income countries (A literature review). Reproductive Medicine (Central Asia), (2), 21–27. https://doi.org/10.37800/RM.2.2026.722

Similar Articles

<< < 10 11 12 13 14 15 16 17 18 19 > >> 

You may also start an advanced similarity search for this article.