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A rare form of familial aortic aneurysm: clinical case and features of medical and genetic counseling.
https://doi.org/10.25557/2073-7998.2025.12.67-73
Abstract
Connective tissue disorders (CTD) is a group of common hereditary diseases that occur in aa population of at least 1:2000 of the population, including at least 200 nosological forms. The most serious CTD complication is aneurysms of the aorta and its branches, which reduces patients’ life expectancy. Аneurysms usually do not cause complaints and remain unrecognized for a long time. This publication presents a family case of Loyes-Dietz syndrome with an unusual combination of genetic and environmental risk factors for aortic rupture in several relatives, which led to an accumulation of sudden deaths in two generations and the need for high-risk surgery in the third one. The article discusses the tactics of medical and genetic counseling for families with Loyes-Dietz syndrome, the importance of timely DNA diagnostics, surgical methods of treatment, and prevention of life-threatening complications.
Keywords
connective tissue dysplasia,
aortic dissection,
ascending aortic aneurysm,
TGFBR1,
Loyes-Ditz syndrome
Supporting agencies: The work was supported by research projects FURG-2023-0008.
About the Authors
E. V. Zaklyazminskaya
Russian research center of surgery named after academician B.V. Petrovsky; Center for Genetics and Reproductive Medicine “GENETICO”
Россия
Россия
L. R. Dzik
Russian research center of surgery named after academician B.V. Petrovsky
Россия
Россия
M. S. Balashova
Russian research center of surgery named after academician B.V. Petrovsky; I.M. Sechenov First Moscow State Medical University (Sechenov University)
Россия
Россия
V. V. Aminov
Federal Center for Cardiovascular Surgery
Россия
Россия
References
1. Faggion Vinholo T., Brownstein A.J., Ziganshin B.A., et al. Genes associated with thoracic aortic aneurysm and dissection: 2019 update and clinical implications. Aorta (Stamford). 2019;7(4):99-107.
2. Verstraeten A., Luyckx I., Loeys B. Aetiology and management of hereditary aortopathy. Nat Rev Cardiol. 2017;14(4):197-208.
3. Mariscalco G., Debiec R., Elefteriades J.A., et al. Systematic review of studies that have evaluated screening tests in relatives of patients affected by nonsyndromic thoracic aortic disease. J Am Heart Assoc. 2018;7(15):e009302.
4. Chukwu M., Ehsan P., Aburumman R.N., et al. Acute Stanford type A aortic dissection: a review of risk factors and outcomes. Cureus. 2023;15(3):e36301.
5. Ryzhkova O.P., Kardymon O.L., Prokhorchuk E.B., et al. Rukovodstvo po interpretatsii dannykh posledovatel’nosti DNK cheloveka, poluchennykh metodami massovogo parallel’nogo sekvenirovaniya (MPS) (redaktsiya 2018, versiya 2) [Guidelines for interpretation of human DNA sequencing data obtained by massive parallel sequencing (MPS) (2018 revision, version 2)]. Meditsinskaya Genetika [Medical Genetics]. 2019;18 (2):3-23. (In Russ.) doi:10.25557/2073-7998.2019.02.3-23
6. Richards S., Aziz N., Bale S., et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424.
7. Loeys B.L., Schwarze U., Holm T., et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006;355(8):788-798.
8. Melenovsky V., Adamira M., Kautznerova D., et al. Aortic dissection in a young man with Loeys-Dietz syndrome. J Thorac Cardiovasc Surg. 2008;135(5):1174-1175.
9. Barnett C.P., Chitayat D., Bradley T.J., et al. Dexamethasone normalizes aberrant elastic fiber production and collagen I secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment? Eur J Hum Genet. 2011;19(6):624-633.
10. TGFBR1 gene. MedlinePlus [Internet]. Available from: https://medlineplus.gov/genetics/gene/tgfbr1/#conditions (дата обращения: 17.03.2025).
11. Gallo E.M., Loch D.C., Habashi J.P., et al. Angiotensin II-dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis. J Clin Invest. 2014;124(1):448-460.
12. Abdul Nabi H., Bcharah G., Dreher L., et al. Sex-based differences in patients with Loeys-Dietz syndrome: an analysis of arteriopathies and surgical interventions. Int J Cardiol. 2025;437:133477.
13. Loeys B.L., Dietz H.C. Loeys-Dietz syndrome. In: Adam M.P., Feldman J., Mirzaa G.M., et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Updated 2024 Sep 12. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1133/
14. James L., Husain N., Langas S.J., et al. Late Loeys-Dietz syndrome diagnosis in an adolescent with severe phenotype. JACC Case Rep. 2025;30(32):105357.
15. Koefoed A.W., Huguenard A.L., Johnson G.W, et al. Characterization of arterial aneurysms in Loeys-Dietz syndrome. J Am Coll Cardiol. 2025;85(24):2343-2352.
16. Hussain K, Huerter M. ACC/AHA guidelines for aortic disease. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Updated 2024 Junе 8. Available from: https://www.ncbi.nlm.nih.gov/books/NBK606128/
17. Ikonomidis J.S. Aortic surgery in Loeys-Dietz syndrome: excellent results, but close surveillance is necessary. J Thorac Cardiovasc Surg. 2017;153(2):413-414.
18. Zaklyazminskaya E.V., et al. Podkhody k diagnostike i monitoringu sosudistykh oslozhneniy u patsiyentov s displaziyami soyedinitel’noy tkani: uchebno-metodicheskoye posobiye [Approaches to diagnostics and monitoring of vascular complications in patients with connective tissue dysplasia: a teaching aid]. Moskva: Izdatel’stvo «Triumf» [Moscow: Triumph Publishing House]; 2025. 54 p. (In Russ.)
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For citations:
Zaklyazminskaya E.V., Dzik L.R., Balashova M.S., Aminov V.V. A rare form of familial aortic aneurysm: clinical case and features of medical and genetic counseling. Medical Genetics. 2025;24(12):67-73. (In Russ.) https://doi.org/10.25557/2073-7998.2025.12.67-73
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