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Atypical coarctation of aorta

MedGen UID:
758831
Concept ID:
C3496579
Disease or Syndrome
Synonym: Midaortic syndrome
SNOMED CT: Middle aortic syndrome (471268000)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0015446
Orphanet: ORPHA1456

Definition

A rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta, with varying involvement of the visceral and renal arteries, that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, and lower-limb claudication, that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Atypical coarctation of aorta

Professional guidelines

PubMed

Somashekar A, Leung YT
Postgrad Med 2023 Jan;135(sup1):14-21. Epub 2023 Jan 2 doi: 10.1080/00325481.2022.2159723. PMID: 36588528
Grayson PC, Ponte C, Suppiah R, Robson JC, Gribbons KB, Judge A, Craven A, Khalid S, Hutchings A, Danda D, Luqmani RA, Watts RA, Merkel PA; DCVAS Study Group
Ann Rheum Dis 2022 Dec;81(12):1654-1660. Epub 2022 Nov 9 doi: 10.1136/ard-2022-223482. PMID: 36351705
Ozen S, Pistorio A, Iusan SM, Bakkaloglu A, Herlin T, Brik R, Buoncompagni A, Lazar C, Bilge I, Uziel Y, Rigante D, Cantarini L, Hilario MO, Silva CA, Alegria M, Norambuena X, Belot A, Berkun Y, Estrella AI, Olivieri AN, Alpigiani MG, Rumba I, Sztajnbok F, Tambic-Bukovac L, Breda L, Al-Mayouf S, Mihaylova D, Chasnyk V, Sengler C, Klein-Gitelman M, Djeddi D, Nuno L, Pruunsild C, Brunner J, Kondi A, Pagava K, Pederzoli S, Martini A, Ruperto N; Paediatric Rheumatology International Trials Organisation (PRINTO)
Ann Rheum Dis 2010 May;69(5):798-806. doi: 10.1136/ard.2009.116657. PMID: 20413568

Recent clinical studies

Etiology

Grayson PC, Ponte C, Suppiah R, Robson JC, Gribbons KB, Judge A, Craven A, Khalid S, Hutchings A, Danda D, Luqmani RA, Watts RA, Merkel PA; DCVAS Study Group
Ann Rheum Dis 2022 Dec;81(12):1654-1660. Epub 2022 Nov 9 doi: 10.1136/ard-2022-223482. PMID: 36351705
Pugh D, Grayson P, Basu N, Dhaun N
Heart 2021 Oct;107(20):1620-1629. Epub 2021 Feb 16 doi: 10.1136/heartjnl-2020-318085. PMID: 33593995
Saadoun D, Vautier M, Cacoub P
Circulation 2021 Jan 19;143(3):267-282. doi: 10.1161/CIRCULATIONAHA.120.046657. PMID: 33464968
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

Diagnosis

Somashekar A, Leung YT
Postgrad Med 2023 Jan;135(sup1):14-21. Epub 2023 Jan 2 doi: 10.1080/00325481.2022.2159723. PMID: 36588528
Millan P, Gavcovich TB, Abitbol C
Curr Opin Pediatr 2022 Apr 1;34(2):223-228. doi: 10.1097/MOP.0000000000001113. PMID: 35142753
Pugh D, Karabayas M, Basu N, Cid MC, Goel R, Goodyear CS, Grayson PC, McAdoo SP, Mason JC, Owen C, Weyand CM, Youngstein T, Dhaun N
Nat Rev Dis Primers 2022 Jan 6;7(1):93. doi: 10.1038/s41572-021-00327-5. PMID: 34992251Free PMC Article
Erdogan M
Curr Opin Rheumatol 2021 Jan;33(1):34-40. doi: 10.1097/BOR.0000000000000762. PMID: 33186247
Marvisi C, Accorsi Buttini E, Vaglio A
Presse Med 2020 Apr;49(1):104018. Epub 2020 Mar 28 doi: 10.1016/j.lpm.2020.104018. PMID: 32234379

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
Millan P, Gavcovich TB, Abitbol C
Curr Opin Pediatr 2022 Apr 1;34(2):223-228. doi: 10.1097/MOP.0000000000001113. PMID: 35142753
Saadoun D, Vautier M, Cacoub P
Circulation 2021 Jan 19;143(3):267-282. doi: 10.1161/CIRCULATIONAHA.120.046657. PMID: 33464968
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

Prognosis

Millan P, Gavcovich TB, Abitbol C
Curr Opin Pediatr 2022 Apr 1;34(2):223-228. doi: 10.1097/MOP.0000000000001113. PMID: 35142753
Pugh D, Karabayas M, Basu N, Cid MC, Goel R, Goodyear CS, Grayson PC, McAdoo SP, Mason JC, Owen C, Weyand CM, Youngstein T, Dhaun N
Nat Rev Dis Primers 2022 Jan 6;7(1):93. doi: 10.1038/s41572-021-00327-5. PMID: 34992251Free PMC Article
Erdogan M
Curr Opin Rheumatol 2021 Jan;33(1):34-40. doi: 10.1097/BOR.0000000000000762. PMID: 33186247
Comarmond C, Saadoun D, Nizard J, Cacoub P
Semin Arthritis Rheum 2020 Oct;50(5):911-914. Epub 2020 Aug 9 doi: 10.1016/j.semarthrit.2020.08.001. PMID: 32911287
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

Clinical prediction guides

Schmidt WA
Best Pract Res Clin Rheumatol 2023 Mar;37(1):101847. Epub 2023 Jul 5 doi: 10.1016/j.berh.2023.101847. PMID: 37419758
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
Grayson PC, Ponte C, Suppiah R, Robson JC, Gribbons KB, Judge A, Craven A, Khalid S, Hutchings A, Danda D, Luqmani RA, Watts RA, Merkel PA; DCVAS Study Group
Ann Rheum Dis 2022 Dec;81(12):1654-1660. Epub 2022 Nov 9 doi: 10.1136/ard-2022-223482. PMID: 36351705
Erdogan M
Curr Opin Rheumatol 2021 Jan;33(1):34-40. doi: 10.1097/BOR.0000000000000762. PMID: 33186247
Blockmans D
Ann N Y Acad Sci 2011 Jun;1228:64-70. doi: 10.1111/j.1749-6632.2011.06021.x. PMID: 21718324

Recent systematic reviews

Fath AR, Mookadam F, Aglan A, Eldaly AS, Jahanyar J, Shamoun F, Lee HR, Solsi A, Israr S, Mihyawi N, Agasthi P, Arsanjani R
Perm J 2022 Sep 14;26(3):103-113. Epub 2022 Aug 2 doi: 10.7812/TPP/21.017. PMID: 35939573Free PMC Article

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