Aortic dissection in a patient with Turner syndrome: a case report
D. S. Butenko,
R. I. Alekberov,
V. V. Spasennikov,
T. M. Kleshchevnikova,
A. Yu. Talybova,
R. S. Talybov https://doi.org/10.15829/1560-4071-2025-6425
EDN: OUXIDK
Abstract
Introduction. Turner syndrome is a genetic disorder caused by complete or partial monosomy of the X chromosome. This disease is characterized by polymorphism of congenital malformations, with predominant involvement of the endocrine and cardiovascular systems. Patients with Turner syndrome demonstrate higher morbidity and mortality rates compared to the general population, which requires comprehensive interdisciplinary approach to their management.
Brief description. The article presents a case of a patient with verified Turner syndrome (45,X karyotype), who was diagnosed with intravital aortic dissection (DeBakey type III), which became possible due to a comprehensive examination. The work describes in detail the characteristic phenotypic manifestations, clinical performance and course, analysis of risk factors, applied diagnostic and treatment methods.
Discussion. The key task of managing patients with hereditary connective tissue disorders is to maintain a high level of clinical alertness among physicians of all specialties. It is critically important not only to recognize the specific risks associated with the genetic syndrome, but also to carefully assess potential trigger factors that can provoke vascular events. Expedited clinical suspicion and verification of life-threatening emergencies, including aortic dissection, require the selection of emergent therapeutic interventions and could reduce mortality.
About the Authors
D. S. Butenko
Regional Clinical Hospital № 2
Russian Federation
Competing Interests:
Russian Federation
Tyumen
Competing Interests:
none
R. I. Alekberov
Regional Clinical Hospital № 2
Russian Federation
Competing Interests:
Russian Federation
Tyumen
Competing Interests:
none
V. V. Spasennikov
Regional Clinical Hospital № 2
Russian Federation
Competing Interests:
Russian Federation
Tyumen
Competing Interests:
none
T. M. Kleshchevnikova
Regional Clinical Hospital № 2
Russian Federation
Competing Interests:
Russian Federation
Tyumen
Competing Interests:
none
A. Yu. Talybova
Regional Hospital № 19
Russian Federation
Competing Interests:
Russian Federation
Tyumen
Competing Interests:
none
R. S. Talybov
Regional Clinical Hospital № 2; Tyumen State Medical University
Russian Federation
Competing Interests:
Russian Federation
Tyumen
Competing Interests:
none
References
1. Khan N, Farooqui A, Ishrat R. Turner Syndrome where are we? Orphanet J Rare Dis. 2024;19(1):314. doi:10.1186/s13023-024-03337-0.
2. Gravholt CH, Viuff M, Just J, et al. The Changing Face of Turner Syndrome. Endocr Rev. 2023;44(1):33-69. doi:10.1210/endrev/bnac016.
3. Thunström S, Krantz E, Thunström E, et al. Incidence of Aortic Dissection in Turner Syndrome. Circulation. 2019;139(24):2802-4. doi:10.1161/CIRCULATIONAHA.119.040552.
4. Thunström S, Thunström E, Naessén S, et al. Aortic size predicts aortic dissection in Turner syndrome — A 25-year prospective cohort study. Int J Cardiol. 2023;373:47-54. doi:10.1016/j.ijcard.2022.11.023.
5. Thunström S, Thunström E, Naessén S, et al. All-cause mortality and death by aortic dissection in women with Turner syndrome: A national clinical cohort study. Am Heart J. 2025;281:1-9. doi:10.1016/j.ahj.2024.11.007.
6. Olukorode JO, Onwuzo CN, Otabor EO, et al. Aortic Size Index Versus Aortic Diameter in the Prediction of Rupture in Women With Abdominal Aortic Aneurysm. Cureus. 2024;16(4): e58673. doi:10.7759/cureus.58673.
7. Girardi LN, Lau C, Gambardella I. Aortic dimensions as predictors of adverse events. J Thorac Cardiovasc Surg. 2021;161(4):1193-7. doi:10.1016/j.jtcvs.2020.06.137.
8. Nijs J, Gelsomino S, Lucà F, et al. Unreliability of aortic size index to predict risk of aortic dissection in a patient with Turner syndrome. World J Cardiol. 2014;6(5):349-52. doi:10.4330/wjc.v6.i5.349.
9. Gravholt CH, Viuff MH, Brun S, et al. Turner syndrome: mechanisms and management. Nat Rev Endocrinol. 2019;15(10):601-14. doi:10.1038/s41574-019-0224-4.
10. Thuijs DJFM, Davierwala P, Milojeciv M, et al. Long-term survival after coronary bypass surgery with multiple versus single arterial grafts. European Journal of Cardio-Thoracic Surgery. 2022;61(4):925-33. doi:10.1093/ejcts/ezab392.
11. Isselbacher EM, Preventza O, Black JH, et al. 2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association. American College of Cardiology Joint Committee on Clinical Practice Guidelines. Circulation. 2022; e223-e393. doi:10.1161/CIR.0000000000001106.
12. Lombardi JV, Hughes GC, Appoo JJ, et al. Society for Vascular Surgery (SVS) and Society of Thoracic Surgeons (STS) reporting standards for type B aortic dissections. The Annals of thoracic surgery. 2020;109(3):959-81. doi:10.1016/j.athoracsur.2019.10.005.
13. Petrov I, Nedevska M, Chilingirova N, et al. Endovascular repair of dissecting thoracic aortic aneurysm in a patient with Turner syndrome. J Endovasc Ther. 2006;13(5):693-6. doi:10.1583/05-1663.1.
14. Blunden CE, Urbina EM, Lawson SA, et al. Progression of Vasculopathy in Young Individuals with Turner Syndrome. Pediatr Cardiol. 2021;42(3):481-91. doi:10.1007/s00246-020-02505-w.
15. Nóbrega PR, da Costa FBS, Rodrigues PGB, et al. Moyamoya associated with Turner syndrome in a patient with type 2 spinocerebellar ataxia-Occam’s razor or Hickam’s dictum: a case report. BMC Neurol. 2022;22(1):381. doi:10.1186/s12883-022-02912-x.
16. Yoon SH, Kim GY, Choi GT, et al. Organ Abnormalities Caused by Turner Syndrome. Cells. 2023;12(10):1365. doi:10.3390/cells12101365.
17. Milewicz DM, Braverman AC, De Backer J, et al. Marfan syndrome. Nat Rev Dis Primers. 2021;7(1):64. doi:10.1038/s41572-021-00298-7. Erratum in: Nat Rev Dis Primers. 2022;8(1):3. doi:10.1038/s41572-022-00338-w.
18. Meccanici F, de Bruijn JWC, Dommisse JS, et al. Prevalence and development of aortic dilation and dissection in women with Turner syndrome: a systematic review and meta-analysis. Expert Review of Cardiovascular Therapy. 2023;21(2):133-44. doi:10.1080/14779072.2023.2172403.
19. Bradley-Watson J, Glatzel H, Turner HE, et al. Elective Aortic Surgery for Prevention of Aortic Dissection in Turner Syndrome: The Potential Impact of Updated European Society of Cardiology and International Turner Syndrome Consensus Group Guidelines on Referrals to the Heart Team. Clin Endocrinol (Oxf). 2025;102(5):559-64. doi:10.1111/cen.15199.
20. Calanchini M, Bradley-Watson J, McMillan F, et al. Risk assessment for aortic dissection in Turner syndrome: The role of the aortic growth rate. Clin Endocrinol (Oxf). 2024;100(3):269-76. doi:10.1111/cen.15017.
21. Wu HH, Li H. Karyotype classification, clinical manifestations and outcome in 124 Turner syndrome patients in China. Ann Endocrinol (Paris). 2019;80(1):10-5. doi:10.1016/j.ando.2017.10.011.
22. Fiot E, Alauze B, Donadille B, et al. Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol). Orphanet J Rare Dis. 2022;17(1):261. doi:10.1186/s13023-022-02423-5.
23. Jones L, Blair J, Hawcutt DB, et al. Hypertension in Turner syndrome: a review of proposed mechanisms, management and new directions. J Hypertens. 2023;41(2):203-11. doi:10.1097/HJH.0000000000003321.
24. Whigham CA, Vollenhoven B, Vincent AJ. Reproductive health in Turner syndrome: A narrative review. Prenat Diagn. 2023;43(2):261-71. doi:10.1002/pd.6261.
25. Porcu E, Cipriani L, Damiano G. Reproductive health in Turner’s syndrome: from puberty to pregnancy. Front Endocrinol (Lausanne). 2023;14:1269009. doi:10.3389/fendo.2023.1269009.
26. Altenburg MM, Davis AM, DeCara JM. Diagnosis and Management of Aortic Diseases. JAMA. 2024;331(4):352-3. doi:10.1001/jama.2023.23668.
27. Evron JM, Hummel SL, Reyes-Gastelum D, et al. Association of Thyroid Hormone Treatment Intensity With Cardiovascular Mortality Among US Veterans. JAMA Netw Open. 2022;5(5):e2211863. doi:10.1001/jamanetworkopen.2022.11863.
28. Berta E, Lengyel I, Halmi S, et al. Hypertension in Thyroid Disorders. Front Endocrinol (Lausanne). 2019;10:482. doi:10.3389/fendo.2019.00482.
29. Lacka K, Pempera N, Główka A, et al. Turner Syndrome and the Thyroid Function-A Systematic and Critical Review. Int J Mol Sci. 2024;25(23):12937. doi:10.3390/ijms252312937.
30. Song Y, Yang H, Wang L, et al. Association of thyroid autoimmunity and the response to recombinant human growth hormone in Turner syndrome. J Pediatr Endocrinol Metab. 2021;34(4):465-71. doi:10.1515/jpem-2020-0610.
31. Spangenberg A, Rao SJ, Mackrell J, et al. Type A Aortic Dissection and Non-Contrast Computed Tomography. J Community Hosp Intern Med Perspect. 2023;13(3):118-20. doi:10.55729/2000-9666.1178.
32. Tekinhatun M, Akbudak İ, Özbek M, et al. Comparison of coronary CT angiography and invasive coronary angiography results. Ir J Med Sci. 2024;193(5):2239-48. doi:10.1007/s11845-024-03745-y.
33. Charnaia MA, Dement’eva II. Hemostasis system in the abdominal aorta aneurysms. Russian Journal of Cardiology and Cardiovascular Surgery. 2017;10(4):4-7. doi:10.17116/kardio20171044-7.
34. Carter JM, Tom RB, Sunesra R, et al. D-dimer as a Rule-Out for Aortic Dissection. Cureus. 2023;15(12):e50170. doi:10.7759/cureus.50170.
- Turner syndrome is a genetic disorder characterized by polymorphism of congenital abnormalities with predominant involvement of the endocrine and cardiovascular systems, which necessitates comprehensive interdisciplinary management of patients.
- A case of a 32-year-old patient with verified Turner syndrome and DeBakey type III aortic dissection, confirmed by paraclinical investigations, is presented.
- Sustaining high clinical vigilance among physicians across all specialties regarding syndrome-specific risks and potential triggers of acute vascular events is critical for early detection of life-threatening conditions, prompt initiation of emergency interventions, and reduction of mortality.
Review
For citations:
Butenko D.S., Alekberov R.I., Spasennikov V.V., Kleshchevnikova T.M., Talybova A.Yu., Talybov R.S. Aortic dissection in a patient with Turner syndrome: a case report. . 2025;30(10S):6425. (In Russ.) https://doi.org/10.15829/1560-4071-2025-6425. EDN: OUXIDK
