- Review
- Open access
- Published:
A Review of Thoracic Aortic Aneurysm Disease
Echo Research & Practice volume 7, pages R1–R10 (2020)
Abstract
Aortic diseases may be diagnosed after a long period of subclinical development or they may have an acute presentation. Acute aortic syndrome is often the first sign of the disease, which needs rapid diagnosis and decision making to reduce the extremely poor prognosis. Aortic dilatation is a well-recognised risk factor for acute events and can occur as a result of trauma, infection, or, most commonly, from an intrinsic abnormality in the elastin and collagen components of the aortic wall. Over the years it has become clear that a few monogenic syndromes are strongly associated with aneurysms and often dictate a severe presentation in younger patients while the vast majority have a multifactorial pathogenesis. Conventional cardiovascular risk factors and ageing play an important role. Management strategy is based on prevention consisting of regular follow-up with cross-sectional imaging, chemoprophylaxis of further dilatation with drugs proved to slow down the disease progression and preventative surgery when dimension exceeds internationally recognised cut-off values for aortic diameters and the risk of rupture/dissection is therefore deemed very high.
References
Howard DP, Banerjee A, Fairhead JF, Perkins J, Silver LE, Rothwell PM & Oxford Vascular Study. Population-based study of incidence and outcome of acute aortic dissection and premorbid risk factor control: 10-year results from the Oxford Vascular Study. Circulation 2013 2031–2037. (https://doiorg.publicaciones.saludcastillayleon.es/10.1161/CIRCULATIONAHA.112.000483)
Tsamis A, Krawiec JT, Vorp DA. Elastin and collagen fibre microstructure of the human aorta in ageing and disease: a review. Journal of the Royal Society, Interface 2013 20121004. (https://doiorg.publicaciones.saludcastillayleon.es/10.1098/rsif.2012.1004)
Collins JA, Munoz J-V, Patel TR, Loukas M, Tubbs RS. The anatomy of the aging aorta. Clinical Anatomy 2014 463–466. (https://doiorg.publicaciones.saludcastillayleon.es/10.1002/ca.22384)
Mahadevia R, Barker AJ, Schnell S, Entezari P, Kansal P, Fedak PW, Malaisrie SC, McCarthy P, Collins J, Carr J, et al. Bicuspid aortic cusp fusion morphology alters aortic three-dimensional outflow patterns, wall shear stress, and expression of aortopathy. Circulation 2014 673–682. (https://doiorg.publicaciones.saludcastillayleon.es/10.1161/CIRCULATIONAHA.113.003026)
Kjellqvist S, Maleki S, Olsson T, Chwastyniak M, Branca RM, Lehtio J, Pinet F, Franco-Cereceda A, Eriksson P. A combined proteomic and transcriptomic approach shows diverging molecular mechanisms in thoracic aortic aneurysm development in patients with tricuspid- and bicuspid aortic valve. Molecular and Cellular Proteomics 2013 407–425. (https://doiorg.publicaciones.saludcastillayleon.es/10.1074/mcp.M112.021873)
Blanton SH, Sarfarazi M, Eiberg H, de Groote J, Farndon PA, Kilpatrick MW, Child AH, Pope FM, Peltonen L, Francomano CA. An exclusion map of Marfan syndrome. Journal of Medical Genetics 1990 73–77. (https://doiorg.publicaciones.saludcastillayleon.es/10.1136/jmg.27.2.73)
Judge DP, Dietz HC. Marfan’s syndrome. Lancet 2005 1965–1976. (https://doiorg.publicaciones.saludcastillayleon.es/10.1016/S0140-6736(05)67789-6)
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, et al. The revised Ghent nosology for the Marfan syndrome. Journal of Medical Genetics 2010 476–485. (https://doiorg.publicaciones.saludcastillayleon.es/10.1136/jmg.2009.072785)
Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. New England Journal of Medicine 2006 788–798. (https://doiorg.publicaciones.saludcastillayleon.es/10.1056/NEJMoa055695)
MacCarrick G, Black JH 3rd, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, Sponseller PD, Loeys B, Dietz HC 3rd. Loeys-Dietz syndrome: a primer for diagnosis and management. Genetics in Medicine 2014 576–587. (https://doiorg.publicaciones.saludcastillayleon.es/10.1038/gim.2014.11)
Loeys BL, Dietz HC. Loeys-Dietz syndrome. In Gene Reviews. Eds MA Adam, HH Ardinger & RA Pagon. Seattle, WA, USA: University of Washington, 2018. (available at: https://www.ncbi.nlm.nih.gov/books/NBK1133/)
Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, Johnson D, Pepin M, Robert L, Sanders L, et al. Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome. American Journal of Medical Genetics: Part C, Seminars in Medical Genetics 2017 40–47. (https://doiorg.publicaciones.saludcastillayleon.es/10.1002/ajmg.c.31553)
Erbel R, Aboyans V, Boileau C, Bossone E, Bartolomeo RD, Eggebrecht H, Evangelista A, Falk V, Frank H, Gaemperli O, 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 2873–2926. (https://doiorg.publicaciones.saludcastillayleon.es/10.1093/eurheartj/ehu281)
Hiratzka LF, Bakris GL, Beckman JA, Bersin RM, Carr VF, Casey DE Jr, Eagle KA, Hermann LK, Isselbacher EM, Kazerooni EA, et al. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with thoracic aortic disease: executive summary. 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. Catheterization and Cardiovascular Interventions 2010 E43–E86. (https://doiorg.publicaciones.saludcastillayleon.es/10.1002/ccd.22537)
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. European Journal of Endocrinology 2017 G1–G70. (https://doiorg.publicaciones.saludcastillayleon.es/10.1530/EJE-17-0430)
Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-Seebacher I, Kosho T, Mendoza-Londono R, Pope MF, Rohrbach M, et al. The Ehlers-Danlos syndromes, rare types. American Journal of Medical Genetics: Part C, Seminars in Medical Genetics 2017 70–115. (https://doiorg.publicaciones.saludcastillayleon.es/10.1002/ajmg.c.31550)
Meester JAN, Verstraeten A, Schepers D, Alaerts M, Van Laer L, Loeys BL. Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. Annals of Cardiothoracic Surgery 2017 582–594. (https://doiorg.publicaciones.saludcastillayleon.es/10.21037/acs.2017.11.03)
Dietz H. Marfan syndrome. In GeneReviews. Eds MA Adam, HH Ardinger & RA Pagon. Seattle, WA, USA: University of Washington, 2017. (available at: https://www.ncbi.nlm.nih.gov/books/NBK1335/)
Verstraeten A, Luyckx I, Loeys B. Aetiology and management of hereditary aortopathy. Nature Reviews: Cardiology 2017 197–208. (https://doiorg.publicaciones.saludcastillayleon.es/10.1038/nrcardio.2016.211)
Emmanuel Y, Gordon-Smith J, McKillop G, Duddy M, Clift P. Late peripheral thoracic aneurysms following aortic root surgery in patients with Loeys-Dietz syndrome. Journal of Vascular and Interventional Radiology 2015 1539–1543. (https://doiorg.publicaciones.saludcastillayleon.es/10.1016/j.jvir.2015.04.014)
van de Laar IM, van der Linde D, Oei EH, Bos PK, Bessems JH, Bierma-Zeinstra SM, van Meer BL, Pals G, Oldenburg RA, Bekkers JA, et al. Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. Journal of Medical Genetics 2012 47–57. (https://doiorg.publicaciones.saludcastillayleon.es/10.1136/jmedgenet-2011-100382)
Sherif HM. Heterogeneity in the segmental development of the aortic tree: impact on management of genetically triggered aortic aneurysms. Aorta 2014 186–195. (https://doiorg.publicaciones.saludcastillayleon.es/10.12945/j.aorta.2014.14-032)
Sinha S, Iyer D, Granata A. Embryonic origins of human vascular smooth muscle cells: implications for in vitro modeling and clinical application. Cellular and Molecular Life Sciences 2014 2271–2288. (https://doiorg.publicaciones.saludcastillayleon.es/10.1007/s00018-013-1554-3)
Nienaber CA, Kische S, Rousseau H, Eggebrecht H, Rehders TC, Kundt G, Glass A, Scheinert D, Czerny M, Kleinfeldt T, et al. Endovascular repair of type B aortic dissection: long-term results of the randomized investigation of stent grafts in aortic dissection trial. Circulation: Cardiovascular Interventions 2013 407–416. (https://doiorg.publicaciones.saludcastillayleon.es/10.1161/CIRCINTERVENTIONS.113.000463)
Nienaber CA. The art of stratifying patients with Type B aortic dissection. Journal of the American College of Cardiology 2016 2843–2845. (https://doiorg.publicaciones.saludcastillayleon.es/10.1016/j.jacc.2016.04.016)
Mancia G, Fagard R, Narkiewicz K, Redon J, Zanchetti A, Bohm M, Christiaens T, Cifkova R, De Backer G, Dominiczak A, et al. 2013 ESH/ESC practice guidelines for the management of arterial hypertension. Blood Pressure 2014 3–16. (https://doiorg.publicaciones.saludcastillayleon.es/10.3109/08037051.2014.868629)
Singh MN, Lacro RV. Recent clinical drug trials evidence in Marfan syndrome and clinical implications. Canadian Journal of Cardiology 2016 66–77. (https://doiorg.publicaciones.saludcastillayleon.es/10.1016/j.cjca.2015.11.003)
Lacro RV, Dietz HC, Mahony L. Atenolol versus losartan in Marfan’s syndrome. New England Journal of Medicine 2015 980–981. (https://doiorg.publicaciones.saludcastillayleon.es/10.1056/NEJMc1500128)
Shores J, Berger KR, Murphy EA, Pyeritz RE. Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan’s syndrome. New England Journal of Medicine 1994 1335–1341. (https://doiorg.publicaciones.saludcastillayleon.es/10.1056/NEJM199405123301902)
Habashi JP, Judge DP, Holm TM, Cohn RD, Loeys BL, Cooper TK, Myers L, Klein EC, Liu G, Calvi C, et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 2006 117–121. (https://doiorg.publicaciones.saludcastillayleon.es/10.1126/science.1124287)
Mullen MJ, Flather MD, Jin XY, Newman WG, Erdem G, Gaze D, Valencia O, Banya W, Foley CE, Child A. A prospective, randomized, placebo-controlled, double-blind, multicenter study of the effects of irbesartan on aortic dilatation in Marfan syndrome (AIMS trial): study protocol. Trials 2013 408. (https://doiorg.publicaciones.saludcastillayleon.es/10.1186/1745-6215-14-408)
Ong KT, Perdu J, De Backer J, Bozec E, Collignon P, Emmerich J, Fauret AL, Fiessinger JN, Germain DP, Georgesco G, et al. Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial. Lancet 2010 1476–1484. (https://doiorg.publicaciones.saludcastillayleon.es/10.1016/S0140-6736(10)60960-9)
Moody WE, Pickup L, Plunkett E, Fryearson J, Clift PF, Katie Morris R, Thompson PJ, Thorne S, Hudsmith LE. Feasibility of performing non-contrast magnetic resonance angiography in pregnant subjects with familial aortopathies. International Journal of Cardiology 2017 354–357. (https://doiorg.publicaciones.saludcastillayleon.es/10.1016/j.ijcard.2017.05.125)
van Hagen IM, Roos-Hesselink JW. Aorta pathology and pregnancy. Best Practice and Research: Clinical Obstetrics and Gynaecology 2014 537–550. (https://doiorg.publicaciones.saludcastillayleon.es/10.1016/j.bpobgyn.2014.03.007)
Coady MA, Rizzo JA, Hammond GL, Kopf GS, Elefteriades JA. Surgical intervention criteria for thoracic aortic aneurysms: a study of growth rates and complications. Annals of Thoracic Surgery 1999 1922–1926; discussion 1953–1928. (https://doiorg.publicaciones.saludcastillayleon.es/10.1016/s0003-4975(99)00431-2)
Jondeau G, Ropers J, Regalado E, Braverman A, Evangelista A, Teixedo G, De Backer J, Muino-Mosquera L, Naudion S, Zordan C, et al. International registry of patients carrying TGFBR1 or TGFBR2 mutations: results of the MAC (Montalcino Aortic Consortium). Circulation: Cardiovascular Genetics 2016 548–558. (https://doiorg.publicaciones.saludcastillayleon.es/10.1161/CIRCGENETICS.116.001485)
Evangelista A, Flachskampf FA, Erbel R, Antonini-Canterin F, Vlachopoulos C, Rocchi G, Sicari R, Nihoyannopoulos P, Zamorano J, European Association of Echocardiography, et al. Echocardiography in aortic diseases: EAE recommendations for clinical practice. European Journal of Echocardiography 2010 645–658. (https://doiorg.publicaciones.saludcastillayleon.es/10.1093/ejechocard/jeq056)
Funding
This review did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.(http://creativecommons.org/licenses/by/4.0/), which permits use, duplication, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license and indicate if changes were made.
About this article
Cite this article
Clift, P.F., Cervi, E. A Review of Thoracic Aortic Aneurysm Disease. Echo Res Pract 7, R1–R10 (2020). https://doiorg.publicaciones.saludcastillayleon.es/10.1530/ERP-19-0049
Received:
Accepted:
Published:
Issue Date:
DOI: https://doiorg.publicaciones.saludcastillayleon.es/10.1530/ERP-19-0049