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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
Aortic aneurysms usually have no symptoms. However, depending on the size, growth rate, and location of these abnormalities, they can cause pain in the jaw, neck, chest, or back; swelling in the arms, neck, or head; difficult or painful swallowing; hoarseness; shortness of breath; wheezing; a chronic cough; or coughing up blood. Aortic dissections usually cause severe, sudden chest or back pain, and may also result in unusually pale skin (pallor), a very faint pulse, numbness or tingling (paresthesias) in one or more limbs, or paralysis.\n\nThe occurrence and timing of these aortic abnormalities vary, even within the same affected family. They can begin in childhood or not occur until late in life. Aortic dilatation is generally the first feature of familial TAAD to develop, although in some affected individuals dissection occurs with little or no aortic dilatation.\n\nFamilial TAAD may not be associated with other signs and symptoms. However, some individuals in affected families show mild features of related conditions called Marfan syndrome or Loeys-Dietz syndrome. These features include tall stature, stretch marks on the skin, an unusually large range of joint movement (joint hypermobility), and either a sunken or protruding chest. Occasionally, people with familial TAAD develop aneurysms in the brain or in the section of the aorta located in the abdomen (abdominal aorta). Some people with familial TAAD have heart abnormalities that are present from birth (congenital). Affected individuals may also have a soft out-pouching in the lower abdomen (inguinal hernia), an abnormal curvature of the spine (scoliosis), or a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin (dermal capillaries). However, these conditions are also common in the general population. Depending on the genetic cause of familial TAAD in particular families, they may have an increased risk of developing blockages in smaller arteries, which can lead to heart attack and stroke.\n\nIn familial TAAD, the aorta can become weakened and stretched (aortic dilatation), which can lead to a bulge in the blood vessel wall (an aneurysm). Aortic dilatation may also lead to a sudden tearing of the layers in the aorta wall (aortic dissection), allowing blood to flow abnormally between the layers. These aortic abnormalities are potentially life-threatening because they can decrease blood flow to other parts of the body such as the brain or other vital organs, or cause the aorta to break open (rupture).\n\nFamilial thoracic aortic aneurysm and dissection (familial TAAD) involves problems with the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. Familial TAAD affects the upper part of the aorta, near the heart. This part of the aorta is called the thoracic aorta because it is located in the chest (thorax). Other vessels that carry blood from the heart to the rest of the body (arteries) can also be affected.
Aortic aneurysm, familial thoracic 6
MedGen UID:
435866
Concept ID:
C2673186
Disease or Syndrome
Familial thoracic aortic aneurysm and dissection (familial TAAD) involves problems with the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. Familial TAAD affects the upper part of the aorta, near the heart. This part of the aorta is called the thoracic aorta because it is located in the chest (thorax). Other vessels that carry blood from the heart to the rest of the body (arteries) can also be affected.\n\nIn familial TAAD, the aorta can become weakened and stretched (aortic dilatation), which can lead to a bulge in the blood vessel wall (an aneurysm). Aortic dilatation may also lead to a sudden tearing of the layers in the aorta wall (aortic dissection), allowing blood to flow abnormally between the layers. These aortic abnormalities are potentially life-threatening because they can decrease blood flow to other parts of the body such as the brain or other vital organs, or cause the aorta to break open (rupture).\n\nFamilial TAAD may not be associated with other signs and symptoms. However, some individuals in affected families show mild features of related conditions called Marfan syndrome or Loeys-Dietz syndrome. These features include tall stature, stretch marks on the skin, an unusually large range of joint movement (joint hypermobility), and either a sunken or protruding chest. Occasionally, people with familial TAAD develop aneurysms in the brain or in the section of the aorta located in the abdomen (abdominal aorta). Some people with familial TAAD have heart abnormalities that are present from birth (congenital). Affected individuals may also have a soft out-pouching in the lower abdomen (inguinal hernia), an abnormal curvature of the spine (scoliosis), or a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin (dermal capillaries). However, these conditions are also common in the general population. Depending on the genetic cause of familial TAAD in particular families, they may have an increased risk of developing blockages in smaller arteries, which can lead to heart attack and stroke.\n\nThe occurrence and timing of these aortic abnormalities vary, even within the same affected family. They can begin in childhood or not occur until late in life. Aortic dilatation is generally the first feature of familial TAAD to develop, although in some affected individuals dissection occurs with little or no aortic dilatation.\n\nAortic aneurysms usually have no symptoms. However, depending on the size, growth rate, and location of these abnormalities, they can cause pain in the jaw, neck, chest, or back; swelling in the arms, neck, or head; difficult or painful swallowing; hoarseness; shortness of breath; wheezing; a chronic cough; or coughing up blood. Aortic dissections usually cause severe, sudden chest or back pain, and may also result in unusually pale skin (pallor), a very faint pulse, numbness or tingling (paresthesias) in one or more limbs, or paralysis.
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
Multisystemic smooth muscle dysfunction syndrome (MSMDS) 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.
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 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
Circulation 2022 Dec 13;146(24):e334-e482. Epub 2022 Nov 2 doi: 10.1161/CIR.0000000000001106. PMID: 36322642Free PMC Article
Wang TKM, Desai MY
Cleve Clin J Med 2020 Aug 31;87(9):557-568. doi: 10.3949/ccjm.87a.19140-1. PMID: 32868306

Recent clinical studies

Etiology

Senser EM, Misra S, Henkin S
Cardiol Clin 2021 Nov;39(4):505-515. doi: 10.1016/j.ccl.2021.06.003. PMID: 34686263
Ostberg NP, Zafar MA, Ziganshin BA, Elefteriades JA
Biomolecules 2020 Jan 24;10(2) doi: 10.3390/biom10020182. PMID: 31991693Free PMC Article
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
Lu H, Daugherty A
Arterioscler Thromb Vasc Biol 2017 Jun;37(6):e59-e65. doi: 10.1161/ATVBAHA.117.309578. PMID: 28539494Free PMC Article
Isselbacher EM, Lino Cardenas CL, Lindsay ME
Circulation 2016 Jun 14;133(24):2516-28. doi: 10.1161/CIRCULATIONAHA.116.009762. PMID: 27297344Free PMC Article

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
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
Saeyeldin AA, Velasquez CA, Mahmood SUB, Brownstein AJ, Zafar MA, Ziganshin BA, Elefteriades JA
Gen Thorac Cardiovasc Surg 2019 Jan;67(1):1-11. Epub 2017 Dec 4 doi: 10.1007/s11748-017-0874-x. PMID: 29204794
Mokashi SA, Svensson LG
Gen Thorac Cardiovasc Surg 2019 Jan;67(1):59-65. Epub 2017 Oct 13 doi: 10.1007/s11748-017-0831-8. PMID: 29030719

Therapy

Wang TKM, Desai MY
Cleve Clin J Med 2020 Aug 31;87(9):557-568. doi: 10.3949/ccjm.87a.19140-1. PMID: 32868306
Hofmann Bowman MA, Eagle KA, Milewicz DM
JAMA Cardiol 2019 Jul 1;4(7):702-707. doi: 10.1001/jamacardio.2019.1176. PMID: 31066871
Guo MH, Appoo JJ, Saczkowski R, Smith HN, Ouzounian M, Gregory AJ, Herget EJ, Boodhwani M
JAMA Netw Open 2018 Aug 3;1(4):e181281. doi: 10.1001/jamanetworkopen.2018.1281. PMID: 30646119Free PMC Article
Calero A, Illig KA
Semin Vasc Surg 2016 Mar;29(1-2):3-17. Epub 2016 Jul 15 doi: 10.1053/j.semvascsurg.2016.07.003. PMID: 27823587
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

Wu S, Cao C, Lun Y, Jiang H, Wang S, He Y, Sun J, Li X, He Y, Huang Y, Chen W, Xin S, Zhang J
J Vasc Surg 2022 Feb;75(2):473-483.e4. Epub 2021 Sep 22 doi: 10.1016/j.jvs.2021.08.086. PMID: 34562571
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
Helgason D, Helgadottir S, Ahlsson A, Gunn J, Hjortdal V, Hansson EC, Jeppsson A, Mennander A, Nozohoor S, Zindovic I, Olsson C, Ragnarsson SO, Sigurdsson MI, Geirsson A, Gudbjartsson T
Ann Thorac Surg 2021 Apr;111(4):1292-1298. Epub 2020 Sep 19 doi: 10.1016/j.athoracsur.2020.07.019. PMID: 32961133
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

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
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
Saeyeldin AA, Velasquez CA, Mahmood SUB, Brownstein AJ, Zafar MA, Ziganshin BA, Elefteriades JA
Gen Thorac Cardiovasc Surg 2019 Jan;67(1):1-11. Epub 2017 Dec 4 doi: 10.1007/s11748-017-0874-x. PMID: 29204794
Liu F, Huang L
Rev Cardiovasc Med 2018 Sep 30;19(3):103-109. doi: 10.31083/j.rcm.2018.03.3182. PMID: 31054559

Recent systematic reviews

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
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
Guo MH, Appoo JJ, Saczkowski R, Smith HN, Ouzounian M, Gregory AJ, Herget EJ, Boodhwani M
JAMA Netw Open 2018 Aug 3;1(4):e181281. doi: 10.1001/jamanetworkopen.2018.1281. PMID: 30646119Free PMC Article
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
Chen Y, Zhang S, Liu L, Lu Q, Zhang T, Jing Z
J Am Heart Assoc 2017 Sep 22;6(9) doi: 10.1161/JAHA.116.004649. PMID: 28939705Free PMC Article

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