E.B. PAVLINOVA, P.A. VEREMSKAYA, A.N. DAKUKO

 Omsk State Medical University, Omsk

Contact details:

Veremskaya P.A. — resident of the Department of Hospital Pediatrics with a course of additional professional education

Address: 12 Lenin St., Omsk, Russian Federation, 644099, tel.: +7-995-273-73-21, e-mail: polina99-10@mail.ru

Bicuspid aortic valve (BAV) is a poorly studied aortic valve defect, occurring in the population with a frequency of 0.5–1 to 2–3%. Despite the absence of significant clinical manifestations in childhood, BAV can cause the development of serious complications in adult patients. Modern genetic studies confirm the hereditary nature of the disease, but are not used in routine diagnostic practice. The widespread use of echocardiography as a screening allows identifying the defect at the preclinical stage, but low awareness of doctors about the significant consequences of this defect often leads to the early development of complications, especially if the patient experiences regular intense physical activity with irregular follow-up of the valve condition. The lack of patient management algorithms stipulated by Russian regulatory documents makes it difficult to provide high-quality and timely care and increases the risk of complications. We analyzed Russian and foreign sources describing the features of embryogenesis and morphology of the bicuspid aortic valve, peculiarities of clinical manifestations of the malformation, modern approaches to diagnosis, including the possibility of genetic studies, as well as therapeutic and surgical methods of treatment of the malformation and its complications. The review also presents a new classification of congenital bicuspid aortic valve and related aortopathies.

Key words: congenital heart defects, aortic valve, bicuspid aortic valve, aortic valve stenosis, aortic valve insufficiency.

(For citation: Pavlinova E.B., Veremskaya P.A., Dakuko A.N. Bicuspid aortic valve in children: a modern view at the problem. Practical medicine. 2023. Vol. , № , P.)

REFERENCES

1. Kong W.K.F., Regeer M., Ng A.C. et al. Sex Differences in Phenotypes of Bicuspid Aortic Valve and Aortopathy: Insights from a Large Multicenter, International Registry. Circulation: Cardiovascular Imaging, 2017, vol. 10 (3), p. e005155. DOI: 10.1161/CIRCIMAGING.116.005155
2. Restivo A., Piacentini G., Placidi S. et al. Cardiac outflow tract: a review of some embryogenetic aspects of the conotruncal region of the heart. The Anatomical Record Part A: Discoveries in Molecular, Cellular, and Evolutionary Biology, 2006, vol. 288 (9), pp. 936–943. DOI: 10.1002/ar.a.20367
3. Sharykin A.S. Bicuspid aortic valve in children: minor anomaly or serious heart defect? Pediatriya. Consilium Medicum, 2016, vol. 3, pp. 99–102 (in Russ.).
4. Sharykin A.S., Popova N.E., Shilykovskaya E.V. et al. Dilatation of the ascending aorta with bicuspid aortic valve in children and adolescents. Rossiyskiy vestnik perinatologii i pediatrii, 2012, vol. 2, pp. 40–45 (in Russ.).
5. Shatov D.V, Gasanova I.Kh. Anatomy of heart valves. Krymskiy zhurnal eksperimental’noy i klinicheskoy meditsiny, 2019, vol. 9 (1), pp. 55–60 (in Russ.).
6. Zaklyaz’minskaya E.V. Genetics and DNA diagnostics of congenital heart defects. Klinicheskaya i eksperimental’naya khirurgiya. Zhurnal im. akad. B.V. Petrovskogo, 2021, vol. 9 (3), pp. 14–20 (in Russ.).
7. Trisvetova E.L. Bicuspid aortic valve: morphology, clinical picture, diagnosis, complications. Ratsional’naya farmakoterapiya v kardiologii, 2021, vol. 17, no. 1, pp. 111–118 (in Russ.).
8. Sievers H.H., Schmidtke C.A. Classification system for the bicuspid aortic valve from 304 surgical specimens. Journal of Thoracic and Cardiovascular Surgery, 2007, vol. 133 (5), pp. 1226–1233. DOI: 10.1016/j.jtcvs .2007.01.039
9. Michelena H.I., Della Corte A., Evangelista A. et al. International Consensus Statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes. Journal of Thoracic and Cardiovascular Surgery, 2021, vol. 162 (3), pp. e383–414. DOI: 10.1016/j.jtcvs.2021.06.019
10. Balistreri C.R., Crapanzano F., Schirone L. et al. Deregulation of Notch1 pathway and circulating endothelial progenitor cell (EPC) number in patients with bicuspid aortic valve with and without ascending aorta aneurysm. Scientific Reports, 2018, vol. 8, p. 13834. DOI: 10.1038/s41598-018-32170-2
11. Luyckx I., MacCarrick G., Kempers M. et al. Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy. European Journal of Human Genetics, 2019, vol. 27, pp. 1044–1053. DOI: 10.1038/s41431-019-0363-z
12. Gould R.A., Aziz H., Woods C.E. et al. ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm. Nature Genetics, 2019, vol. 51, pp. 42–50 (in Russ.). DOI: 10.1038/s41588-018-0265-y
13. Tainkin A.A., Krivonogova A.G. Bicuspid aortic valve (clinical case). Byulleten’ meditsinskikh internet‐konferentsiy, 2019, vol. 9, no. 9, pp. 403–406 (in Russ.).
14. Trisvetova E.L. Bicuspid aortic valve and aortopathies. Mezhdunarodnye obzory: klinicheskaya praktika i zdorov’e, 2015, no. 3, pp. 38–49 (in Russ.).
15. Michelena H.I., Prakash S.K., della Corte A. et al. Bicuspid aortic valve: Identifying knowledge gaps and rising to the challenge from the international bicuspid aortic valve consortium (BAVCon). Circulation, 2014, vol. 129 (5), pp. 2691–2704. DOI: 10.1161/CIRCULATIONAHA.113.007851
16. Shailee Y. Shah, Andrew Higgins, Milind Y. Desai. Bicuspid aortic valve: Basics and beyond. Cleveland Clinic Journal of Medicine, 2018, vol. 85 (10), pp. 779–784. DOI: 10.3949/ccjm.85a.17069
17. Borger M.A., Fedak P.W.M., Stephens E.H. et al. The American Association for Thoracic Surgery consensus guidelines on bicuspid aortic valverelated aortopathy: Full online-only version. Journal of Thoracic and Cardiovascular Surgery, 2018, vol. 156 (2), pp. e41–e74. DOI: 10.1016/jtcvs.2018.02.115
18. Delyagin V.M., Aksenova N.S., Doktorova N.M. Bicuspid aortic valve as an indicator of connective tissue dysplasia. Meditsinskiy sovet, 2018, no. 11, pp. 181–184 (in Russ.).
19. Kudryashova M.V. Connective tissue dysplasia of the heart: clinical, immunological, hemodynamic aspects. Vestnik soveta molodykh uchenykh i spetsialistov Chelyabinskoy oblasti, 2021, vol. 1, no. 36, pp. 21–33 (in Russ.).
20. Malinina E.V., Dubinkin V.A., Malinina T.A. Aktual’nye voprosy voennoy klinicheskoy meditsiny: materialy nauch.-prakt. internet-konf. s mezhdunar. uchastiem, Minsk, 5–15 fevralya 2019 g. [Current issues of military clinical medicine: scientific and practical materials. Internet conf. with international participation, Minsk, February 5–15, 2019]. Minsk: BGMU, 2019. Pp. 66–69.
21. Michalowska I.M., Hryniewiecki T., Kwiatek P. et al. Coronary artery variants and anomalies in patients with bicuspid aortic valve. Journal of Thoracic Imaging, 2016, vol. 31 (3), pp. 156–162. DOI: 10.1097/RTI.0000000000000205
22. Egbe A.C., Padanq R., Brown R.D. et al. Prevalence and predictors of intracranial aneurysms in patients with bicuspid aortic valve. Heart, 2017, vol. 103 (19), pp. 1508–1514. DOI: 10.1136/heartjnl-2016-311076
23. Malikov K.N., Popov S.V., Alekseeva D.Yu. et al. Bicuspid aortic valve in young athletes. Is sport possible? Rossiyskiy kardiologicheskiy zhurnal, 2019, no. 24 (4s2), p. 31 (in Russ.).
24. Gavrilova E.A., Askarova M.V., Mineeva E.P. Bicuspid aortic valve and sports. Sportivnaya meditsina: nauka i praktika, 2018, vol. 8, no. 3, pp. 59–64 (in Russ.).
25. Barry J. Maron, Douglas P. Zipes, Richard J. Kovacs. American Heart Association Electrocardiography and Arrhythmias Committee of Council on Clinical Cardiology, Council on Cardiovascular Disease in Young, Council on Cardiovascular and Stroke Nursing, Council on Functional Genomics and Translational Biology, and American College of Cardiology. Eligibility and Disqualification Recommendations for Competitive Athletes with Cardiovascular Abnormalities: Preamble, Principles, and General Considerations. Circulation, 2015, vol. 132 (22), pp. e262–e266. DOI: 10.1161/CIR.0000000000000236
26. Sharykin A.S., Trunina I.I., Karelina E.V. et al. Pathology of the aortic valve in school-age children and the possibilities of stress echocardiography. Pediatriya im. G.N. Speranskogo, 2018, vol. 97, no. 3, pp. 42–51 (in Russ.).
27. Karelina E.V., Komarov A.V., Osipova E.P. et al. he influence of physical activity on the condition of the aorta with bicuspid aortic valve. Rossiyskiy kardiologicheskiy zhurnal, 2022, no. 27 (S6), p. 61 (in Russ.).
28. Allen B.D., Markl M., Barker A.J., et al. Influence of beta-blocker therapy on aortic blood flow in patients with bicuspid aortic valve. International Journal of Cardiovascular Imaging, 2016, vol. 32 (4), pp. 621–628. DOI: 10.1007/s10554-015-0819-3
29. Ohnemus D., Oster M.E., Gatlin S. et al. The effect of angiotensin-converting enzyme inhibitors on the rate of ascending aorta dilation in patients with bicuspid aortic valve. Congenital Heart Disease, 2015, vol. 10 (1), pp. E1–E5. DOI: 10.1111/chd.12184
30. Erbel R., Aboyans V., Boileau C. et al. 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). European Heart Journal, 2014, vol. 35 (41), pp. 2873–2926. DOI: 10.1093/eurheartj/ehu281
31. Uspenskiy V.E., Malev E.G., Gavrilyuk N.D., Salavatov B.K. et al. Surgical correction of a borderline dilated ascending aorta during bicuspid aortic valve replacement. Al’manakh klinicheskoy meditsiny, 2019, vol. 47, no. 4, pp. 299–309 (in Russ.).