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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, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, 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.
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, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, 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

Wu J, Zafar MA, Liu Y, Chen JF, Li Y, Ziganshin BA, Ellauzi H, Mukherjee SK, Rizzo JA, Elefteriades JA
Eur Heart J 2023 Nov 14;44(43):4579-4588. doi: 10.1093/eurheartj/ehad148. PMID: 36994934
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
Rohde S, Zafar MA, Ziganshin BA, Elefteriades JA
Asian Cardiovasc Thorac Ann 2021 Sep;29(7):682-696. Epub 2020 Jul 20 doi: 10.1177/0218492320943800. PMID: 32689806
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

Meester JAN, De Kinderen P, Verstraeten A, Loeys B
Adv Exp Med Biol 2021;1348:265-272. doi: 10.1007/978-3-030-80614-9_12. PMID: 34807424
Senser EM, Misra S, Henkin S
Cardiol Clin 2021 Nov;39(4):505-515. doi: 10.1016/j.ccl.2021.06.003. PMID: 34686263
Wang TKM, Desai MY
Cleve Clin J Med 2020 Aug 31;87(9):557-568. doi: 10.3949/ccjm.87a.19140-1. PMID: 32868306
Kallianos KG, Burris NS
Radiol Clin North Am 2020 Jul;58(4):721-731. Epub 2020 May 12 doi: 10.1016/j.rcl.2020.02.009. PMID: 32471540Free PMC Article
Yuan SM
Z Rheumatol 2020 Jun;79(5):475-481. doi: 10.1007/s00393-019-00740-y. PMID: 31858218

Therapy

Gong Z, Huang J, Wang D, Yang S, Ma Z, Fu Y, Ma Q, Kong W
J Mol Med (Berl) 2023 Mar;101(3):237-248. Epub 2023 Jan 20 doi: 10.1007/s00109-023-02284-w. PMID: 36662289
Wang TKM, Desai MY
Cleve Clin J Med 2020 Aug 31;87(9):557-568. doi: 10.3949/ccjm.87a.19140-1. PMID: 32868306
Gökalp AL, Takkenberg JJM
Semin Thorac Cardiovasc Surg 2019 Winter;31(4):638-642. Epub 2019 Jun 14 doi: 10.1053/j.semtcvs.2019.05.032. PMID: 31207296
Krizhanovskii C, Franco-Cereceda A
Curr Vasc Pharmacol 2019;17(5):432-439. doi: 10.2174/1570161116666180828155622. PMID: 30156160
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

Oftadeh M, Ural N, LeVan P, Prabhu V, Haske M
J Cardiothorac Vasc Anesth 2021 Nov;35(11):3362-3373. Epub 2021 May 16 doi: 10.1053/j.jvca.2021.04.048. PMID: 34154920
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
Franchin M, Grassi V, Piffaretti G, Bush RL, Tozzi M, Lomazzi C
Cardiovasc Intervent Radiol 2021 Feb;44(2):220-229. Epub 2020 Oct 19 doi: 10.1007/s00270-020-02676-2. PMID: 33078232
Cheung K, Boodhwani M, Chan KL, Beauchesne L, Dick A, Coutinho T
J Am Heart Assoc 2017 Feb 3;6(2) doi: 10.1161/JAHA.116.003792. PMID: 28159818Free PMC Article
Elefteriades JA, Farkas EA
J Am Coll Cardiol 2010 Mar 2;55(9):841-57. doi: 10.1016/j.jacc.2009.08.084. PMID: 20185035

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
Rohde S, Zafar MA, Ziganshin BA, Elefteriades JA
Asian Cardiovasc Thorac Ann 2021 Sep;29(7):682-696. Epub 2020 Jul 20 doi: 10.1177/0218492320943800. PMID: 32689806
Fletcher AJ, Syed MBJ, Aitman TJ, Newby DE, Walker NL
Circulation 2020 May 12;141(19):1570-1587. Epub 2020 May 11 doi: 10.1161/CIRCULATIONAHA.119.043756. PMID: 32392100Free PMC Article
Faggion Vinholo T, Zafar MA, Ziganshin BA, Elefteriades JA
Semin Thorac Cardiovasc Surg 2019 Winter;31(4):628-634. Epub 2019 Jun 15 doi: 10.1053/j.semtcvs.2019.05.035. PMID: 31212014
Elefteriades JA, Farkas EA
J Am Coll Cardiol 2010 Mar 2;55(9):841-57. doi: 10.1016/j.jacc.2009.08.084. PMID: 20185035

Recent systematic reviews

Howard C, Sheridan J, Picca L, Reza S, Smith T, Ponnapalli A, Calow R, Cross O, Iddawela S, George M, Livra Dias D, Srinivasan A, Munir W, Bashir M, Idhrees M
J Card Surg 2021 Oct;36(10):3820-3830. Epub 2021 Jul 26 doi: 10.1111/jocs.15827. PMID: 34310731
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
Abraha I, Romagnoli C, Montedori A, Cirocchi R
Cochrane Database Syst Rev 2016 Jun 6;2016(6):CD006796. doi: 10.1002/14651858.CD006796.pub4. PMID: 27265222Free PMC Article
Oladokun D, Patterson BO, Sobocinski J, Karthikesalingam A, Loftus I, Thompson MM, Holt PJ
Eur J Vasc Endovasc Surg 2016 May;51(5):674-81. Epub 2016 Mar 2 doi: 10.1016/j.ejvs.2016.01.017. PMID: 26947541
Canaud L, Ozdemir BA, Patterson BO, Holt PJ, Loftus IM, Thompson MM
Ann Surg 2014 Aug;260(2):389-95. doi: 10.1097/SLA.0000000000000585. PMID: 24441822

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