Marfan syndrome: diagnosis and treatment of cardiovascular lesions
DOI:
https://doi.org/10.15574/PS.2021.70.63Keywords:
Marfan syndrome, aortic aneurysm, aortic dissectionAbstract
Purpose – to analise of results, long-term experience of surgical treatment of cardiovascular diseases in patients with Marfan syndrome to improve quality and prolong life.
Materials and methods. A conducted prospective analysis of consecutive patients (292) with Marfan syndrome treated at the institute during 1980–2018. The age of patients was 7–57 years, mean 31.6±9.4 years. Among them, men – 220 (75.3%), women – 72 (24.7%). Marfan syndrome was diagnosed according to the criteria of Gent Nosology (2010). 24 (8.2%) patients were not operated on for various reasons. The remaining 268 (91.8%) were managed surgicaly: 257 – ascending aortic aneurysm; 4 – abdominal; 7 patients – only mitral valve insufficiency.
Results. Hospital mortality was 9.3% (25 patients). Long-term results were studied in 224 (92.2%) patients from all who had been discharged from the clinic within 6 months – 20 years on average 63 months. Good long-term results were admitted in 145 (64.7%), satisfactory in 41 (18.3%), unsatisfactory in 14 (6.3%) patients. 24 (9.9%) patients died in the long term observation.
Conclusions. Aortic aneurysms in patients with Marfan syndrome are formed at a young age. The most common cause sof death in the unoperated cases are rupture of aneurism or heart failure. The «gold-standarg» remains the Bentall De Bono operation. The patients who underwent surgical treatment requires observation during all-life period.
The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of these Institutes. The informed consent of the patient was obtained for conducting the studies.
The authors declare no conflicts of interests.
References
Aranson NJ, Patel PB, Mohebali J, Lancaster RT, Ergul EA, Clouse WD, Conrad MF, Patel VI. (2020, Aug). Presentation, surgical intervention, and long-term survival in patients with Marfan syndrome. J Vasc Surg. 72 (2): 480-489. Epub 2020 Feb 19. https://doi.org/10.1016/j.jvs.2019.10.060; PMid:32085956
Choudhary Shiv Kumar, Aayush Goyal. (2019, Jun). Aortic root surgery in Marfan syndrome. Indian J Thorac Cardiovasc Surg. 35 (2): 79-86. https://doi.org/10.1007/s12055-018-0761-9; PMid:33061070 PMCid:PMC7525511
Dordoni C, Ciaccio C, Santoro G, Venturini M, Cavallari U, Ritelli M, Colombi M. (2017, Jan). Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review. Am J Med Genet A. 173 (1): 200-206. Epub 2016 Sep 12. https://doi.org/10.1002/ajmg.a.37975; PMid:27615407
Iskandar Z, Mordi I, Lang CC, Huang JTJ, Choy AM. (2020, Mar/Apr). Biomarkers of Aortopathy in Marfan Syndrome. Cardiol Rev. 28 (2): 92-97. https://doi.org/10.1097/CRD.0000000000000289; PMid:31985522
Kari FA, Russe MF, Peter P et al. (2013). Late complications and distal growth rates of Marfan aortas after proximal aortic repair. Eur J. Cardio-Thorac Surg. 44: 163-171. https://doi.org/10.1093/ejcts/ezs674; PMid:23295445
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB et al. (2010). The revised Ghent nosology for the Marfan syndrome. J Med Genet. 47: 476-485. https://doi.org/10.1136/jmg.2009.072785; PMid:20591885
Luneva EB, Parfenova NN, Korshunova AL, Zemtsovsky EV. (2012). New aproaches to marfan syndrome diagnostics. Russian family doctor. 16 (3): 14-19. https://doi.org/10.17816/RFD2012314-19
Plichta RP, Glower DD, Hughes GC. (2019, Mar 4). Valvular Disease in Marfan Syndrome: Surgical Considerations and Management. Curr Cardiol Rep. 21 (4): 23. https://doi.org/10.1007/s11886-019-1110-3; PMid:30828749
Pyeritz RE. (1990). Marfan Syndrome. N Engl J Med. 323: 987-989. https://doi.org/10.1056/NEJM199010043231409; PMid:2402263
Roman MJ, Devereux RB. (2020, Mar 3). Aortic Dissection Risk in Marfan Syndrome. J Am Coll Cardiol. 75 (8): 854-856. https://doi.org/10.1016/j.jacc.2019.12.042; PMid:32130919
Shmidt OYu, Prylutska KYu, Gritsay AO. (2020). Aortic dissection as one of the leading causes of death in marfan syndrome: a clinical case. «Emergency Medicine»(«Medicina neotložnyh sostoanij»). 16 (1): 95-99. https://doi.org/10.22141/2224-0586.16.1.2020.196936
Сameron DE, Alejo DE, Patel WD et al. (2009). Aortic root replacement in 372 Marfan patients: evolution etoperative repair over 30 years. Ann Thorac. Surg. 87: 1344-1349. https://doi.org/10.1016/j.athoracsur.2009.01.073; PMid:19379862
Downloads
Published
Issue
Section
License
The policy of the Journal “PAEDIATRIC SURGERY. UKRAINE” is compatible with the vast majority of funders' of open access and self-archiving policies. The journal provides immediate open access route being convinced that everyone – not only scientists - can benefit from research results, and publishes articles exclusively under open access distribution, with a Creative Commons Attribution-Noncommercial 4.0 international license(СС BY-NC).
Authors transfer the copyright to the Journal “PAEDIATRIC SURGERY.UKRAINE” when the manuscript is accepted for publication. Authors declare that this manuscript has not been published nor is under simultaneous consideration for publication elsewhere. After publication, the articles become freely available on-line to the public.
Readers have the right to use, distribute, and reproduce articles in any medium, provided the articles and the journal are properly cited.
The use of published materials for commercial purposes is strongly prohibited.
