A Rare Congenital Heart Defect in a Child: a Clinical Case

Congenital heart defects remain one of the most common developmental anomalies. Modern medicine has made significant progress in the diagnosis and treatment of these diseases; but malformations are still a serious problem for pediatric cardiology. A single ventricle of the heart is one of the rare and unique congenital defects. The natural progression of the disease is unfavorable: about two-thirds of the patients die in the first year of life due to severe pulmonary hypertension; increasing heart failure; severe hypoxemia and arrhythmias.

This article presents a clinical case of a patient with prenatally diagnosed concomitant heart disease in the form of a functionally single left ventricle with tricuspid valve atresia; right ventricular hypoplasia (with the formation of a ‘graduate’); without pulmonary artery stenosis; the presence of atrial and interventricular septal defects. In order to stabilize the condition of the newborn after the first month of life; a surgical intervention was performed in the form of narrowing of the pulmonary artery trunk. At the age of 6 months; a surgical intervention was performed to form a bidirectional cavopulmonary anastomosis. The average life expectancy of this category of patients in the natural course of the defect is no more than 5-6 years; and in the first year more than 75% of the patients die from the progression of heart failure and hypoxia; and only about 20% live up to 25 years.

These defects are especially difficult for cardiac surgery; since their radical correction is anatomically impossible. In this regard; a step-by-step surgical treatment is performed - hemodynamic correction. Surgical formation of a bidirectional cavopulmonary anastomosis becomes a ‘lifeline’ for patients with the single left ventricle. It should be noted that at present this surgical intervention is carried out at the earliest possible age; since chronic arterial hypoxemia causes irreversible changes in all organs and systems.

1. Krasteleva IM; Beresten’ SA; Murav’eva AS. Osobennosti i chastota formirovaniya kriticheskikh vrozhdennykh porokov serdtsa. Maternity and child welfare. 2024;1(43):80–81. (In Russ.)

2. Arnautova IV; Volkov SS; Gushchin DK; Gorbachevsky SV; Zelenikin MA; Zelenikin MM; et al. Guidelines for the management of patients with a single ventricle (2016 revision). Cardiovascular Surgery News. 2018;2(4):258–267 (In Russ.) https://doi.org/10.24183/2588-0284-2018-2-4-258-267

3. Murkamilov I; Aitbaev K; Yusupov F; Raimzhanov Z; Yusupova Z; Yusupova T; et al. The Single Ventricle of the Heart in Combination with Transposition of the Main Vessels in the Practice of a Doctor: A Clinical Case. Bulletin of Science and Practice. 2024;10(11):270–281. (In Russ.). https://doi.org/10.33619/2414-2948/108/34

4. Bezrodnova OM; Kuznetsova IG; Drepa TG; Yurchenko MS. Univentricular heart. Clinical case. Medical news of the North Caucasus. 2024;19(4):340–341. (In Russ.) https://doi.org/10.14300/mnnc.2024.19076

5. Dariy OYu; Aslanidi IP; Yurpolskaya LA; Zavarina AYu; Dorofeev AV; Podzolkov VP; et al. Cardiac magnetic resonance 4D-flow and Т1 myocardial mapping patterns associated with adverse myocardial remodeling after Fontan operation. Grudnaya i Serdechno-Sosudistaya Khirurgiya. 2023;65(3):286–293. (In Russ.) https://doi.org/10.24022/0236-2791-2023-65-3-286-293

6. Hirai K; Sawada R; Hayashi T; Araki T; Nakagawa N; Kondo M; et al.; TICAP/PERSEUS Study Group. Eight-Year Outcomes of Cardiosphere-Derived Cells in Single Ventricle Congenital Heart Disease. J Am Heart Assoc. 2024;13(22):e038137. PMID: 39526355 https://doi.org/10.1161/JAHA.124.038137

7. Ponzoni M; Azzolina D; Vedovelli L; Gregori D; Di Salvo G; D’Udekem Y; et al. Ventricular morphology of single-ventricle hearts has a significant impact on outcomes after Fontan palliation: a meta-analysis. Eur J Cardiothorac Surg. 2022;62(6):ezac535. PMID: 36367236 https://doi.org/10.1093/ejcts/ezac535

8. Murtuzaaliev ZN; Magomedov AD; Kazilov BR; Meylanova FV; Ashurbekov VT; Kazilov YuB; et al. Slozhnyy sluchay sochetannykh porokov razvitiya i mochekamennoy bolezni u rebenka. Yu.F. Isakov Russian Journal of Pediatric Surgery. 2021;25(S 1):53. (In Russ.)

9. Sarsenbayeva GI; Kim AI; Tulebayeva AK. Rare Congenital Diseases in Children’s Cardiac Surgery. Health Care of Tajikistan. 2019;(2):71–77. (In Russ.)

10. Davis EK; Ginde S; Stelter J; Frommelt P; Hill GD. Echocardiographic assessment of single-ventricle diastolic function and its correlation to short-term outcomes after the Fontan operation. Congenit Heart Dis. 2019;14(5):720–725. PMID: 31231979 https://doi.org/10.1111/chd.12814

11. Buber J; Schwaegler RG; Mazor Dray E. Echocardiographic evaluation of univentricular physiology and cavopulmonary shunts. Echocardiography. 2019;36(7):1381–1390. PMID: 31246324 https://doi.org/10.1111/echo.14421

12. Sengupta A; Gauvreau K; Kaza A; Hoganson D; Del Nido PJ; Nathan M. Timing of reintervention influences survival and resource utilization following first-stage palliation of single ventricle heart disease. J Thorac Cardiovasc Surg. 2023;165(2):436–446. PMID: 35961880 https://doi.org/10.1016/j.jtcvs.2022.04.033

13. Darii OIY; Yurpolskaya LA; Yurlov IA; Dorofeev AV. Changes in Single Ventricular Geometry and Morphology After Fontan Operation. Russian Electronic Journal of Radiology. 2022;12(2):164–171. (In Russ.) https://doi.org/10.21569/2222-7415-2022-12-2-164-171

14. Avramenko AA; Svechkov NA; Khokhlunov SM. Reconstruction of the pulmonary vascular bed at the stages of hemodynamic correction in patients with functionally single ventricle. Grekov’s Bulletin of Surgery. 2023;182(2):20–28. (In Russ.) https://doi.org/10.24884/0042-4625-2023-182-2-20-28

15. Podzolkov VP. Actual problems of surgical treatment of congenital heart diseases with univentricular hemodynamics by the Fontan procedure. Bakoulev Journal for Cardiovascular Diseases. 2018;19 (5);625–636. (In Russ.) https://doi.org/10.24022/1810-0694-2018-19-5-625-636