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Takayasu arteritis

MedGen UID:
21458
Concept ID:
C0039263
Disease or Syndrome
Synonyms: Aortic arch syndrome; Pulseless disease; Takayasu disease; Young female arteritis
SNOMED CT: Takayasu disease (359789008); Takayasu's disease (359789008); Acquired aortoarteritis (359789008); Aortic arch arteritis (359789008); Occlusive thromboarteriopathy (359789008); Primary arteritis (359789008); Pulseless disease (359789008); Idiopathic medial aortopathy AND arteriopathy (359789008); Reverse coarctation (359789008); Atypical coarctation (359789008); Takayasu's arteriopathy (359789008); Takayasu's arteritis (359789008); Martorell syndrome (359789008); Nonspecific arteritis (359789008); Sclerosing aortitis AND arteritis (359789008); Nonspecific aortoarteritis (359789008); Raeder-Harbitz syndrome (359789008); Young female arteritis (359789008)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0017991
OMIM®: 207600
Orphanet: ORPHA3287

Definition

A rare, congenital anomaly of the great arteries characterized by cranially situated aortic arch ascending into the neck above the clavicles. Most patients remain asymptomatic, some present with a murmur and a pulsatile neck mass, stridor, dyspnea, recurrent bronchitis, dysphagia or signs and symptoms of a stenosis/aneurism of the aortic arch. Other congenital heart anomalies are frequently associated, including abnormalities of arch laterality and branching, aortic coarctation or aneurysm. [from ORDO]

Clinical features

From HPO
Arteritis
MedGen UID:
13916
Concept ID:
C0003860
Pathologic Function
Arterial inflammation.
  • Abnormality of the cardiovascular system

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTakayasu arteritis
Follow this link to review classifications for Takayasu arteritis in Orphanet.

Professional guidelines

PubMed

Kermani TA, Warrington KJ, Dua AB
Rheum Dis Clin North Am 2022 Aug;48(3):705-724. Epub 2022 Jul 5 doi: 10.1016/j.rdc.2022.03.006. PMID: 35953232
Maz M, Chung SA, Abril A, Langford CA, Gorelik M, Guyatt G, Archer AM, Conn DL, Full KA, Grayson PC, Ibarra MF, Imundo LF, Kim S, Merkel PA, Rhee RL, Seo P, Stone JH, Sule S, Sundel RP, Vitobaldi OI, Warner A, Byram K, Dua AB, Husainat N, James KE, Kalot MA, Lin YC, Springer JM, Turgunbaev M, Villa-Forte A, Turner AS, Mustafa RA
Arthritis Rheumatol 2021 Aug;73(8):1349-1365. Epub 2021 Jul 8 doi: 10.1002/art.41774. PMID: 34235884
Hellmich B, Agueda A, Monti S, Buttgereit F, de Boysson H, Brouwer E, Cassie R, Cid MC, Dasgupta B, Dejaco C, Hatemi G, Hollinger N, Mahr A, Mollan SP, Mukhtyar C, Ponte C, Salvarani C, Sivakumar R, Tian X, Tomasson G, Turesson C, Schmidt W, Villiger PM, Watts R, Young C, Luqmani RA
Ann Rheum Dis 2020 Jan;79(1):19-30. Epub 2019 Jul 3 doi: 10.1136/annrheumdis-2019-215672. PMID: 31270110

Recent clinical studies

Etiology

Esatoglu SN, Hatemi G
Curr Opin Rheumatol 2022 Jan 1;34(1):18-24. doi: 10.1097/BOR.0000000000000852. PMID: 34698679
Erdogan M
Curr Opin Rheumatol 2021 Jan;33(1):34-40. doi: 10.1097/BOR.0000000000000762. PMID: 33186247
Zaldivar Villon MLF, de la Rocha JAL, Espinoza LR
Curr Rheumatol Rep 2019 Jul 18;21(9):45. doi: 10.1007/s11926-019-0848-3. PMID: 31321560
Di Santo M, Stelmaszewski EV, Villa A
Cardiol Young 2018 Mar;28(3):354-361. Epub 2017 Dec 13 doi: 10.1017/S1047951117001998. PMID: 29233197
Seyahi E
Curr Opin Rheumatol 2017 Jan;29(1):51-56. doi: 10.1097/BOR.0000000000000343. PMID: 27748689

Diagnosis

Ezzeddine FM, Hurst PD, Bookwalter CA
Mayo Clin Proc 2023 Jul;98(7):1033-1034. doi: 10.1016/j.mayocp.2023.03.001. PMID: 37419571
Wen D, Feng L, Du X, Dong JZ, Ma CS
Int J Cardiol 2023 Jan 15;371:413-417. Epub 2022 Sep 5 doi: 10.1016/j.ijcard.2022.08.058. PMID: 36067923
Millan P, Gavcovich TB, Abitbol C
Curr Opin Pediatr 2022 Apr 1;34(2):223-228. doi: 10.1097/MOP.0000000000001113. PMID: 35142753
Tombetti E, Mason JC
Rheumatology (Oxford) 2019 Feb 1;58(2):206-219. doi: 10.1093/rheumatology/key040. PMID: 29635396
Keser G, Aksu K, Direskeneli H
Turk J Med Sci 2018 Aug 16;48(4):681-697. doi: 10.3906/sag-1804-136. PMID: 30114347

Therapy

Somashekar A, Leung YT
Postgrad Med 2023 Jan;135(sup1):14-21. Epub 2023 Jan 2 doi: 10.1080/00325481.2022.2159723. PMID: 36588528
Torp CK, Brüner M, Keller KK, Brouwer E, Hauge EM, McGonagle D, Kragstrup TW
Autoimmun Rev 2021 Jun;20(6):102829. Epub 2021 Apr 16 doi: 10.1016/j.autrev.2021.102829. PMID: 33872767
Hellmich B, Agueda A, Monti S, Buttgereit F, de Boysson H, Brouwer E, Cassie R, Cid MC, Dasgupta B, Dejaco C, Hatemi G, Hollinger N, Mahr A, Mollan SP, Mukhtyar C, Ponte C, Salvarani C, Sivakumar R, Tian X, Tomasson G, Turesson C, Schmidt W, Villiger PM, Watts R, Young C, Luqmani RA
Ann Rheum Dis 2020 Jan;79(1):19-30. Epub 2019 Jul 3 doi: 10.1136/annrheumdis-2019-215672. PMID: 31270110
Tombetti E, Mason JC
Rheumatology (Oxford) 2019 Feb 1;58(2):206-219. doi: 10.1093/rheumatology/key040. PMID: 29635396
Keser G, Aksu K, Direskeneli H
Turk J Med Sci 2018 Aug 16;48(4):681-697. doi: 10.3906/sag-1804-136. PMID: 30114347

Prognosis

Millan P, Gavcovich TB, Abitbol C
Curr Opin Pediatr 2022 Apr 1;34(2):223-228. doi: 10.1097/MOP.0000000000001113. PMID: 35142753
Erdogan M
Curr Opin Rheumatol 2021 Jan;33(1):34-40. doi: 10.1097/BOR.0000000000000762. PMID: 33186247
Keser G, Aksu K, Direskeneli H
Turk J Med Sci 2018 Aug 16;48(4):681-697. doi: 10.3906/sag-1804-136. PMID: 30114347
Di Santo M, Stelmaszewski EV, Villa A
Cardiol Young 2018 Mar;28(3):354-361. Epub 2017 Dec 13 doi: 10.1017/S1047951117001998. PMID: 29233197
Alibaz-Oner F, Direskeneli H
Presse Med 2015 Jun;44(6 Pt 2):e259-65. Epub 2015 May 29 doi: 10.1016/j.lpm.2015.01.015. PMID: 26033561

Clinical prediction guides

Misra DP, Singh K, Rathore U, Kavadichanda CG, Ora M, Jain N, Agarwal V
Best Pract Res Clin Rheumatol 2023 Mar;37(1):101826. Epub 2023 May 26 doi: 10.1016/j.berh.2023.101826. PMID: 37246052
Erdogan M
Curr Opin Rheumatol 2021 Jan;33(1):34-40. doi: 10.1097/BOR.0000000000000762. PMID: 33186247
Pham V, Hemptinne Q, Grinda JM, Duboc D, Varenne O, Picard F
Arch Cardiovasc Dis 2020 Jan;113(1):59-69. Epub 2019 Dec 19 doi: 10.1016/j.acvd.2019.10.008. PMID: 31866173
Keser G, Aksu K, Direskeneli H
Turk J Med Sci 2018 Aug 16;48(4):681-697. doi: 10.3906/sag-1804-136. PMID: 30114347
Lally L, Spiera RF
Rheum Dis Clin North Am 2015 May;41(2):315-31. Epub 2015 Feb 27 doi: 10.1016/j.rdc.2015.01.004. PMID: 25836645

Recent systematic reviews

Dejaco C, Ramiro S, Bond M, Bosch P, Ponte C, Mackie SL, Bley TA, Blockmans D, Brolin S, Bolek EC, Cassie R, Cid MC, Molina-Collada J, Dasgupta B, Nielsen BD, De Miguel E, Direskeneli H, Duftner C, Hočevar A, Molto A, Schäfer VS, Seitz L, Slart RHJA, Schmidt WA
Ann Rheum Dis 2024 May 15;83(6):741-751. doi: 10.1136/ard-2023-224543. PMID: 37550004
Zeng L, Yang T, Yang K, Yu G, Li J, Xiang W, Chen H
Front Immunol 2022;13:896476. Epub 2022 Aug 1 doi: 10.3389/fimmu.2022.896476. PMID: 35979355Free PMC Article
Maz M, Chung SA, Abril A, Langford CA, Gorelik M, Guyatt G, Archer AM, Conn DL, Full KA, Grayson PC, Ibarra MF, Imundo LF, Kim S, Merkel PA, Rhee RL, Seo P, Stone JH, Sule S, Sundel RP, Vitobaldi OI, Warner A, Byram K, Dua AB, Husainat N, James KE, Kalot MA, Lin YC, Springer JM, Turgunbaev M, Villa-Forte A, Turner AS, Mustafa RA
Arthritis Rheumatol 2021 Aug;73(8):1349-1365. Epub 2021 Jul 8 doi: 10.1002/art.41774. PMID: 34235884
Torp CK, Brüner M, Keller KK, Brouwer E, Hauge EM, McGonagle D, Kragstrup TW
Autoimmun Rev 2021 Jun;20(6):102829. Epub 2021 Apr 16 doi: 10.1016/j.autrev.2021.102829. PMID: 33872767
Dejaco C, Ramiro S, Duftner C, Besson FL, Bley TA, Blockmans D, Brouwer E, Cimmino MA, Clark E, Dasgupta B, Diamantopoulos AP, Direskeneli H, Iagnocco A, Klink T, Neill L, Ponte C, Salvarani C, Slart RHJA, Whitlock M, Schmidt WA
Ann Rheum Dis 2018 May;77(5):636-643. Epub 2018 Jan 22 doi: 10.1136/annrheumdis-2017-212649. PMID: 29358285

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