DOI: https://doi.org/10.22141/2224-0586.16.1.2020.196936

Aortic dissection as one of the leading causes of death in Marfan syndrome: a clinical case

O.Yu. Shmidt, K.Yu. Prylutska, A.O. Gritsay

Abstract


Marfan syndrome, along with other hereditary connective tissue diseases, is the second most common cause of aortic aneurysm. The prognosis of patients with aortic aneurysm depends on early diagnosis and, consequently, early surgical treatment. This article presents a clinical case of late diagnosed Marfan syndrome that was complicated by aortic dissection and subsequently (on the background of unstable blood pressure) — by rupture of the ascending aorta.

Keywords


Marfan syndrome; hereditary connective tissue di­seases; aortic aneurysm; aortic dissection; ruptured aneurysm

References


Fishchenko IаV. Marfan’s Syndrome. Visnyk ortopedii, travmatolohii ta protezuvannia [Internet]. 2013 [cited 2019 Nov 20];(1):66-72. Available from: http://nbuv.gov.ua/UJRN/Votip_2013_1_18 Ukrainian.

Zhuraev RK. Marfan syndrome: evolution of diagnostic criteria. Ukrainian Medical Journal [Internet]. 2012 [cited 2019 Nov 14];(1):98-102. Available from: http://nbuv.gov.ua/UJRN/UMCh_2012_1_27 Ukrainian.

Erbel R, Aboyans V, Boileau C, et al.; ESC Committee for Practice Guidelines. 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). Eur Heart J. 2014 Nov 1;35(41):2873-926. doi: 10.1093/eurheartj/ehu281. PubMed PMID: 25173340.

Pearson GD, Devereux R, Loeys B, et al.; National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group. Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders. Circulation. 2008 Aug 12;118(7):785-91. doi: 10.1161/CIRCULATIONAHA.108.783753. PubMed PMID: 18695204; PubMed Central PMCID: PMC2909440.

Baumgartner H, Bonhoeffer P, De Groot NM, et al.; Task Force on the Management of Grown-up Congenital Heart Disease of the European Society of Cardiology (ESC); Association for European Paediatric Cardiology (AEPC); ESC Committee for Practice Guidelines (CPG). ESC Guidelines for the management of grown-up congenital heart disease (new version 2010). Eur Heart J. 2010 Dec;31(23):2915-57. doi: 10.1093/eurheartj/ehq249. PubMed PMID: 20801927.

You W, Hong Y, He H, et al. TGF-β mediates aortic smooth muscle cell senescence in Marfan syndrome. Aging (Albany NY). 2019 May 30;11(11):3574-84. doi: 10.18632/aging.101998. PubMed PMID: 31147528; PubMed Central PMCID: PMC6594817.

Klemenov АV, Suslov АS. Hereditary Connective Tissue Disorders: a Modern Approach to Classification and Diagnosis (Review). Sovremennye tehnologii v medicine [Internet]. 2014 [cited 2019 Nov 21]; 6(2): 127-137. Available from: http://www.stm-journal.ru/ru/numbers/2014/2/1065 Russian.

Groenink M, Lohuis TA, Tijssen JG, et al. Survival and complication free survival in Marfan's syndrome: implications of current guidelines. Heart. 1999 Oct;82(4):499-504. PubMed PMID: 10490568; PubMed Central PMCID: PMC1760285.

Kuzmichev DE, Chirkov SV, Ilyina MР, Viltsev IM. Diagnosing aneurysms of the thoracic aorta. Medical examination problems [Internet]. 2013 [cited 2019 Nov 12];(3):40-3. Available from: https://cyberleninka.ru/article/n/k-voprosu-diagnostiki-anevrizmy-grudnoy-chasti-aorty/viewer Russian.

Groznova OS, Kalachanova EP, Leontyeva IV, Rzhevskaya PE. Severe cardiovascular system involvement in a patient with Marfan’s syndrome. Russian Bulletin of perinatology and pediatrics. 2015;60(2):95-9. Russian. doi: 10.21508/1027–4065–2019–64–1–116–119.

von Kodolitsch Y, Rybczynski M, Vogler M, et al. The role of the multidisciplinary health care team in the management of patients with Marfan syndrome. J Multidiscip Healthc. 2016 Nov 3;9:587-614. Review. PubMed PMID: 27843325; PubMed Central PMCID: PMC5098778.

Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785. PubMed PMID: 20591885.

Hiratzka LF, Bakris GL, Beckman JA, et al.; American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines; American Association for Thoracic Surgery; American College of Radiology; American Stroke Association; Society of Cardiovascular Anesthesiologists; Society for Cardiovascular Angiography and Interventions; Society of Interventional Radiology; Society of Thoracic Surgeons; Society for Vascular Medicine. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation. 2010 Apr 6;121(13):e266-369. doi: 10.1161/CIR.0b013e3181d4739e. PubMed PMID: 20233780.

Aubart M, Gazal S, Arnaud P, et al. Association of modifiers and other genetic factors explain Marfan syndrome clinical variability. Eur J Hum Genet. 2018 Dec;26(12):1759-72. doi: 10.1038/s41431-018-0164-9. PubMed PMID: 30087447; PubMed Central PMCID: PMC6244213.

Markovsky VD, Sorokina IV, Kaluzhina OV, Pliten ON, Maslov AV. Dissecting aortic aneurysm in a patient with marfan syndrome (a case from pathologist practice). Actual Problems of the Modern Medicine: Bulletin of Ukrainian Medical Stomatological Academy [Internet]. 2013 [cited 2019 Nov 21];13(4):206-10. Available from: http://nbuv.gov.ua/UJRN/apsm_2013_13_4_53 Russian.

von Kodolitsch Y, De Backer J, Schüler H, et al. Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome. Appl Clin Genet. 2015 Jun 16;8:137-55. doi: 10.2147/TACG.S60472. Review. PubMed PMID: 26124674; PubMed Central PMCID: PMC4476478.

Magomedov M, Gadzhiyev A, Shikhabidov N, Alkhasov A, Saidov M. Aortic dissection complicated with spinal ischemic insult // MIA Medical Bulletin [Internet]. 2016 [cited 2019 Nov 14];82(3):25-8. Available from: http://www.ormvd.ru/pubs/105/came-out-no-3-2016-volume-lxxxii-the-scientific-practical-journal-medical-bulletin-of-the-ministry-o/ Russian.

Sukhareva GE. Cardiovascular complications of Marfan syndrome in children in the Crimea. Russian Bulletin of perinatology and pediatrics. 2019;64:(1):116-9. Russian. doi: 10.21508/1027–4065–2019–64–1–116–119.

Timofeev EV, Malev EG, Luneva EB, Zemtsovsky EV. The activity of transforming growth factor-β in young age with marfanoid habitus. Pediatrician (St. Petersburg). 2019;10(1):49-56. Russian. doi: 10.17816/PED10149-56.

de Beaufort HWL, Trimarchi S, Korach A, et al. Aortic dissection in patients with Marfan syndrome based on the IRAD data. Ann Cardiothorac Surg. 2017 Nov;6(6):633-641. doi: 10.21037/acs.2017.10.03. PubMed PMID: 29270375; PubMed Central PMCID: PMC5721116.




Copyright (c) 2020 EMERGENCY MEDICINE

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.

 

© Publishing House Zaslavsky, 1997-2020

 

   Seo анализ сайта