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Descending thoracic aorta aneurysm

MedGen UID:
730531
Concept ID:
C1388233
Anatomical Abnormality
Synonyms: Aneurysm, Descending Thoracic Aorta; Descending Thoracic Aortic Aneurysm
SNOMED CT: Aneurysm of descending thoracic aorta (2831000119107)
 
HPO: HP:0004959

Definition

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

Term Hierarchy

Conditions with this feature

Loeys-Dietz syndrome 2
MedGen UID:
382398
Concept ID:
C2674574
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.
Loeys-Dietz syndrome 1
MedGen UID:
1646567
Concept ID:
C4551955
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.

Professional guidelines

PubMed

Upchurch GR Jr, Escobar GA, Azizzadeh A, Beck AW, Conrad MF, Matsumura JS, Murad MH, Perry RJ, Singh MJ, Veeraswamy RK, Wang GJ
J Vasc Surg 2021 Jan;73(1S):55S-83S. Epub 2020 Jul 3 doi: 10.1016/j.jvs.2020.05.076. PMID: 32628988
Brown JA, Arnaoutakis GJ, Kilic A, Gleason TG, Aranda-Michel E, Sultan I
J Card Surg 2020 Sep;35(9):2324-2330. Epub 2020 Jul 15 doi: 10.1111/jocs.14823. PMID: 32668075
Dudzinski DM, Isselbacher EM
Curr Cardiol Rep 2015 Dec;17(12):106. doi: 10.1007/s11886-015-0655-z. PMID: 26468124

Recent clinical studies

Etiology

Leone N, Andreoli F, Bartolotti LAM, Migliari M, Baresi GF, Saitta G, Silingardi R, Gennai S
Eur J Cardiothorac Surg 2023 Oct 4;64(4) doi: 10.1093/ejcts/ezad290. PMID: 37603731
Ascaso M, Ibrahim M, Chung JCY, Lindsay TF, Crawford S, Ouzounian M
Multimed Man Cardiothorac Surg 2022 May 24;2022 doi: 10.1510/mmcts.2022.024. PMID: 35616992
Rosu C, Ruz R, Overbeek C, Elkouri S
J Endovasc Ther 2022 Oct;29(5):808-812. Epub 2021 Dec 2 doi: 10.1177/15266028211062562. PMID: 34852663
Georgiadis GS, Argyriou C, Koutsoumpelis A, Konstantinou F, Chloropoulou P, Chrisafis I, Souftas V
Ann Vasc Surg 2018 Nov;53:272.e11-272.e17. Epub 2018 Aug 4 doi: 10.1016/j.avsg.2018.05.052. PMID: 30081173
Biglioli P, Spirito R, Porqueddu M, Agrifoglio M, Pompilio G, Parolari A, Dainese L, Sisillo E
Ann Thorac Surg 1999 Apr;67(4):1038-43; discussion 1043-4. doi: 10.1016/s0003-4975(99)00146-0. PMID: 10320248

Diagnosis

Soares AMMN, Sá MPBO, Escorel Neto AC, Cavalcanti LRP, Zhigalov K, Weymann A, Ruhparwar A, Lima RC
J Card Surg 2020 Feb;35(2):503-506. Epub 2019 Dec 19 doi: 10.1111/jocs.14406. PMID: 31856350
Cavozza C, Campanella A, Audo A
Multimed Man Cardiothorac Surg 2018 Dec 4;2018 doi: 10.1510/mmcts.2018.049. PMID: 30549512
Monaco M, Lillo S, La Marca Giordano A, Contaldo A, Schiavone V
Ann Vasc Surg 2014 Jul;28(5):1323.e1-5. Epub 2014 Feb 15 doi: 10.1016/j.avsg.2014.01.023. PMID: 24534686
Raimundo M, Machado AP
Rev Port Cardiol 2012 May;31(5):381-4. doi: 10.1016/j.repc.2011.06.002. PMID: 22480937
Amin S, Luketich J, Wald A
Dig Dis Sci 1998 Aug;43(8):1665-71. doi: 10.1023/a:1018850728928. PMID: 9724148

Therapy

Leone N, Andreoli F, Bartolotti LAM, Migliari M, Baresi GF, Saitta G, Silingardi R, Gennai S
Eur J Cardiothorac Surg 2023 Oct 4;64(4) doi: 10.1093/ejcts/ezad290. PMID: 37603731
Rosu C, Ruz R, Overbeek C, Elkouri S
J Endovasc Ther 2022 Oct;29(5):808-812. Epub 2021 Dec 2 doi: 10.1177/15266028211062562. PMID: 34852663
Georgiadis GS, Argyriou C, Koutsoumpelis A, Konstantinou F, Chloropoulou P, Chrisafis I, Souftas V
Ann Vasc Surg 2018 Nov;53:272.e11-272.e17. Epub 2018 Aug 4 doi: 10.1016/j.avsg.2018.05.052. PMID: 30081173
Da Rocha M, Zarka ZA, Riambau VA
Interact Cardiovasc Thorac Surg 2009 Dec;9(6):947-50. Epub 2009 Sep 18 doi: 10.1510/icvts.2009.214494. PMID: 19767302

Prognosis

Ascaso M, Ibrahim M, Chung JCY, Lindsay TF, Crawford S, Ouzounian M
Multimed Man Cardiothorac Surg 2022 May 24;2022 doi: 10.1510/mmcts.2022.024. PMID: 35616992
Georgiadis GS, Argyriou C, Koutsoumpelis A, Konstantinou F, Chloropoulou P, Chrisafis I, Souftas V
Ann Vasc Surg 2018 Nov;53:272.e11-272.e17. Epub 2018 Aug 4 doi: 10.1016/j.avsg.2018.05.052. PMID: 30081173
Monaco M, Lillo S, La Marca Giordano A, Contaldo A, Schiavone V
Ann Vasc Surg 2014 Jul;28(5):1323.e1-5. Epub 2014 Feb 15 doi: 10.1016/j.avsg.2014.01.023. PMID: 24534686
Mosquera VX, Campos V, Marini M, Valle JV, Cao I, Gulias D, Juffé A
Ann Thorac Surg 2008 Dec;86(6):1989-91. doi: 10.1016/j.athoracsur.2008.04.099. PMID: 19022031

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