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Thoracic aortic aneurysm

MedGen UID:
56525
Concept ID:
C0162872
Anatomical Abnormality
Synonym: Aneurysm of thoracic aorta
SNOMED CT: Aneurysm of thoracic aorta (433068007)
 
HPO: HP:0012727
Monarch Initiative: MONDO:0005396
OMIM®: 607086

Definition

An abnormal localized widening (dilatation) of the thoracic aorta. [from HPO]

Conditions with this feature

Aortic aneurysm, familial thoracic 4
MedGen UID:
338704
Concept ID:
C1851504
Disease or Syndrome
Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene.
Aortic aneurysm, familial thoracic 6
MedGen UID:
435866
Concept ID:
C2673186
Disease or Syndrome
Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene.
Aneurysm-osteoarthritis syndrome
MedGen UID:
462437
Concept ID:
C3151087
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, and cervical spine malformation and/or instability), craniofacial features (hypertelorism, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
Multisystemic smooth muscle dysfunction syndrome
MedGen UID:
462551
Concept ID:
C3151201
Disease or Syndrome
Smooth muscle dysfunction syndrome (SMDYS) presents with a recognizable pattern of complications, including congenital mydriasis, patent ductus arteriosus (PDA), pulmonary artery hypertension, aortic and other arterial aneurysms, moyamoya-like cerebrovascular disease, intestinal hypoperistalsis and malrotation, and hypotonic bladder. It is caused by heterozygous mutations of the ACTA2 gene altering the arginine-179 codon (summary by Regalado et al., 2018).
Aortic aneurysm, familial thoracic 9
MedGen UID:
863805
Concept ID:
C4015368
Disease or Syndrome
Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene.
Aortic aneurysm, familial thoracic 10
MedGen UID:
924785
Concept ID:
C4284414
Disease or Syndrome
Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene.
Autosomal recessive cutis laxa type 2C
MedGen UID:
1385755
Concept ID:
C4479387
Disease or Syndrome
Autosomal recessive cutis laxa type IIC (ARCL2C) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular involvement (summary by Van Damme et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100).
Ehlers-Danlos syndrome, classic-like, 2
MedGen UID:
1632001
Concept ID:
C4693870
Disease or Syndrome
Ehlers-Danlos syndrome classic-like-2 (EDSCLL2) is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018). For a discussion of genetic heterogeneity of classic-like Ehlers-Danlos syndrome, see 606408. For a discussion of the classification of EDS, see 130000.
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
MedGen UID:
1788773
Concept ID:
C5543476
Disease or Syndrome
Megacystis-microcolon-intestinal hypoperistalsis syndrome-2 (MMIHS2) is characterized by prenatal bladder enlargement, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition and urinary catheterization. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure (summary by Wang et al., 2019). For a discussion of genetic heterogeneity of MMIHS, see 249210.
Loeys-Dietz syndrome 6
MedGen UID:
1794251
Concept ID:
C5562041
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, and cervical spine malformation and/or instability), craniofacial features (hypertelorism, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
Congenital heart defects, multiple types, 8, with or without heterotaxy
MedGen UID:
1794252
Concept ID:
C5562042
Disease or Syndrome
Multiple types of congenital heart defects-8 (CHTD8) is characterized by cardiac septal defects, double-outlet right ventricle, unbalanced complete atrioventricular canal, and valvular anomalies, as well as vascular anomalies including dextroposition of the great arteries, anomalous pulmonary venous return, and superior vena cava to left atrium defect. Patients may also exhibit laterality defects, including dextrocardia, atrial isomerism, dextrogastria, left-sided gallbladder, and intestinal malrotation (Zaidi et al., 2013; Granadillo et al., 2018).

Professional guidelines

PubMed

Writing Committee Members, Isselbacher EM, Preventza O, Hamilton Black J 3rd, Augoustides JG, Beck AW, Bolen MA, Braverman AC, Bray BE, Brown-Zimmerman MM, Chen EP, Collins TJ, DeAnda A Jr, Fanola CL, Girardi LN, Hicks CW, Hui DS, Schuyler Jones W, Kalahasti V, Kim KM, Milewicz DM, Oderich GS, Ogbechie L, Promes SB, Ross EG, Schermerhorn ML, Singleton Times S, Tseng EE, Wang GJ, Woo YJ; Peer Review Committee Members, Faxon DP, Upchurch GR Jr, Aday AW, Azizzadeh A, Boisen M, Hawkins B, Kramer CM, Luc JGY, MacGillivray TE, Malaisrie SC, Osteen K, Patel HJ, Patel PJ, Popescu WM, Rodriguez E, Sorber R, Tsao PS, Santos Volgman A; AHA/ACC Joint Committee Members, Beckman JA, Otto CM, O'Gara PT, Armbruster A, Birtcher KK, de las Fuentes L, Deswal A, Dixon DL, Gorenek B, Haynes N, Hernandez AF, Joglar JA, Jones WS, Mark D, Mukherjee D, Palaniappan L, Piano MR, Rab T, Spatz ES, Tamis-Holland JE, Woo YJ
J Thorac Cardiovasc Surg 2023 Nov;166(5):e182-e331. Epub 2023 Jun 28 doi: 10.1016/j.jtcvs.2023.04.023. PMID: 37389507Free PMC Article
Writing Committee Members, Isselbacher EM, Preventza O, Hamilton Black Iii J, Augoustides JG, Beck AW, Bolen MA, Braverman AC, Bray BE, Brown-Zimmerman MM, Chen EP, Collins TJ, DeAnda A Jr, Fanola CL, Girardi LN, Hicks CW, Hui DS, Jones WS, Kalahasti V, Kim KM, Milewicz DM, Oderich GS, Ogbechie L, Promes SB, Ross EG, Schermerhorn ML, Times SS, Tseng EE, Wang GJ, Woo YJ
J Am Coll Cardiol 2022 Dec 13;80(24):e223-e393. Epub 2022 Nov 2 doi: 10.1016/j.jacc.2022.08.004. PMID: 36334952Free PMC Article
Isselbacher EM, Preventza O, Hamilton Black J 3rd, Augoustides JG, Beck AW, Bolen MA, Braverman AC, Bray BE, Brown-Zimmerman MM, Chen EP, Collins TJ, DeAnda A Jr, Fanola CL, Girardi LN, Hicks CW, Hui DS, Schuyler Jones W, Kalahasti V, Kim KM, Milewicz DM, Oderich GS, Ogbechie L, Promes SB, Gyang Ross E, Schermerhorn ML, Singleton Times S, Tseng EE, Wang GJ, Woo YJ; Peer Review Committee Members
Circulation 2022 Dec 13;146(24):e334-e482. Epub 2022 Nov 2 doi: 10.1161/CIR.0000000000001106. PMID: 36322642Free PMC Article

Recent clinical studies

Etiology

Sterpetti AV, Campagnol M, Di Marzo L
Eur Heart J Cardiovasc Imaging 2024 Sep 30;25(10):e247-e249. doi: 10.1093/ehjci/jeae179. PMID: 39005065
Ganizada BH, Veltrop RJA, Akbulut AC, Koenen RR, Accord R, Lorusso R, Maessen JG, Reesink K, Bidar E, Schurgers LJ
Basic Res Cardiol 2024 Jun;119(3):371-395. Epub 2024 May 3 doi: 10.1007/s00395-024-01053-1. PMID: 38700707Free PMC Article
Zhou Z, Cecchi AC, Prakash SK, Milewicz DM
Genes (Basel) 2022 Oct 7;13(10) doi: 10.3390/genes13101814. PMID: 36292699Free PMC Article
Senser EM, Misra S, Henkin S
Cardiol Clin 2021 Nov;39(4):505-515. doi: 10.1016/j.ccl.2021.06.003. PMID: 34686263
Salameh MJ, Black JH 3rd, Ratchford EV
Vasc Med 2018 Dec;23(6):573-578. Epub 2018 Oct 29 doi: 10.1177/1358863X18807760. PMID: 30370834

Diagnosis

Ganizada BH, Veltrop RJA, Akbulut AC, Koenen RR, Accord R, Lorusso R, Maessen JG, Reesink K, Bidar E, Schurgers LJ
Basic Res Cardiol 2024 Jun;119(3):371-395. Epub 2024 May 3 doi: 10.1007/s00395-024-01053-1. PMID: 38700707Free PMC Article
Carbone RG, Monselise A, Puppo F
Eur Rev Med Pharmacol Sci 2023 Sep;27(17):8218-8224. doi: 10.26355/eurrev_202309_33582. PMID: 37750650
Senser EM, Misra S, Henkin S
Cardiol Clin 2021 Nov;39(4):505-515. doi: 10.1016/j.ccl.2021.06.003. PMID: 34686263
Yuan SM
Z Rheumatol 2020 Jun;79(5):475-481. doi: 10.1007/s00393-019-00740-y. PMID: 31858218
Finkelmeier BA, Marolda D
J Cardiovasc Nurs 2001 Jul;15(4):15-24. doi: 10.1097/00005082-200107000-00003. PMID: 11419663

Therapy

Nick S, Wouter VDE
Eur J Vasc Endovasc Surg 2023 Sep;66(3):396. Epub 2023 Jul 25 doi: 10.1016/j.ejvs.2023.07.039. PMID: 37500007
Lejay A, Chakfé N
Eur J Vasc Endovasc Surg 2018 Feb;55(2):248. Epub 2017 Oct 20 doi: 10.1016/j.ejvs.2017.09.005. PMID: 29066006
Hage A, Hage F, Toeg H, Davies R, Boodhwani M
J Card Surg 2017 Feb;32(2):156-158. Epub 2017 Jan 30 doi: 10.1111/jocs.13096. PMID: 28139011
Aranson NJ, Watkins MT
Circulation 2015 Apr 7;131(14):1291-9. doi: 10.1161/CIRCULATIONAHA.114.006512. PMID: 25847980
Nienaber CA, Kische S, Rousseau H, Eggebrecht H, Rehders TC, Kundt G, Glass A, Scheinert D, Czerny M, Kleinfeldt T, Zipfel B, Labrousse L, Fattori R, Ince H; INSTEAD-XL trial
Circ Cardiovasc Interv 2013 Aug;6(4):407-16. Epub 2013 Aug 6 doi: 10.1161/CIRCINTERVENTIONS.113.000463. PMID: 23922146

Prognosis

Yap ZJ, Sharif M, Bashir M
J Card Surg 2021 Apr;36(4):1520-1530. Epub 2021 Feb 18 doi: 10.1111/jocs.15440. PMID: 33604952
Iglesias CI, Arenas Azofra E, Busto Suárez S, Álvarez Marcos F, Zanabili Al-Sibbai AA, Alonso Pérez M
Vasc Med 2021 Feb;26(1):50-52. Epub 2020 Oct 11 doi: 10.1177/1358863X20960513. PMID: 33043857
Uchino G, Yunoki K, Sakoda N, Hattori S, Kawabata T, Saiki M, Fujita Y, Hisamochi K, Yoshida H
Interact Cardiovasc Thorac Surg 2017 May 1;24(5):708-713. doi: 10.1093/icvts/ivw450. PMID: 28329046
Akhyari P, Bara C, Kofidis T, Khaladj N, Haverich A, Klima U
Int Heart J 2009 Jan;50(1):47-57. doi: 10.1536/ihj.50.47. PMID: 19246846
Kimmerling EA, Smith JK, Tenholder MF
South Med J 1993 Oct;86(10):1160-3. doi: 10.1097/00007611-199310000-00017. PMID: 8211337

Clinical prediction guides

Senser EM, Misra S, Henkin S
Cardiol Clin 2021 Nov;39(4):505-515. doi: 10.1016/j.ccl.2021.06.003. PMID: 34686263
Spanos K, Tsilimparis N
Eur J Vasc Endovasc Surg 2018 Jul;56(1):56. doi: 10.1016/j.ejvs.2018.04.007. PMID: 29759376
Shalhub S, Dua A, Brooks J
Semin Vasc Surg 2014 Dec;27(3-4):196-9. Epub 2015 Jan 16 doi: 10.1053/j.semvascsurg.2015.01.001. PMID: 26073830
Orr N, Minion D, Bobadilla JL
Vasc Health Risk Manag 2014;10:493-505. Epub 2014 Aug 19 doi: 10.2147/VHRM.S46452. PMID: 25170271Free PMC Article
Elefteriades JA
J Thorac Cardiovasc Surg 2010 Dec;140(6 Suppl):S5-9; discussion S45-51. doi: 10.1016/j.jtcvs.2010.10.001. PMID: 21092797

Recent systematic reviews

Howard C, Al-Tawil M, Geragotellis A, Abdelhaliem A
J Card Surg 2022 Nov;37(11):3863-3864. Epub 2022 Sep 7 doi: 10.1111/jocs.16920. PMID: 36069162
Gouveia E Melo R, Silva Duarte G, Lopes A, Alves M, Caldeira D, Fernandes E Fernandes R, Mendes Pedro L
Semin Thorac Cardiovasc Surg 2022 Spring;34(1):1-16. Epub 2021 Mar 8 doi: 10.1053/j.semtcvs.2021.02.029. PMID: 33705940
He Y, Jia S, Sun G, Cao L, Wang X, Zhang H, Jia X, Ma X, Xiong J, Liu X, Guo W
Vasc Endovascular Surg 2020 Aug;54(6):510-518. Epub 2020 May 21 doi: 10.1177/1538574420927131. PMID: 32436464
Aschacher T, Salameh O, Enzmann F, Messner B, Bergmann M
Int J Mol Sci 2017 Dec 21;19(1) doi: 10.3390/ijms19010003. PMID: 29267201Free PMC Article
Lyons O, Clough R, Patel A, Saha P, Carrell T, Taylor P
J Endovasc Ther 2011 Aug;18(4):591-600. doi: 10.1583/11-3468.1. PMID: 21861752

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