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Great Vessels Abnormality

MedGen UID:
476191
Concept ID:
C3274558
Congenital Abnormality
Synonym: Great vessel abnormalities

Definition

A congenital vascular abnormality that affects the great vessels and/or aortic arch. Representative examples include double aortic arch, aortic coarctation, and absence of a pulmonary artery. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGreat Vessels Abnormality

Professional guidelines

PubMed

Soofi M, Alpert MA, Barbadora J, Mukerji B, Mukerji V
Am J Med Sci 2021 Sep;362(3):233-242. Epub 2021 May 28 doi: 10.1016/j.amjms.2021.05.020. PMID: 34052215
Cowan JR, Ware SM
Clin Perinatol 2015 Jun;42(2):373-93, ix. Epub 2015 Apr 14 doi: 10.1016/j.clp.2015.02.009. PMID: 26042910
Mellander M
Semin Fetal Neonatal Med 2013 Oct;18(5):302-10. Epub 2013 May 18 doi: 10.1016/j.siny.2013.04.007. PMID: 23688937

Recent clinical studies

Etiology

Panayiotou A, Thorne S, Hudsmith LE, Holloway B
Clin Radiol 2022 Apr;77(4):e261-e268. Epub 2021 Dec 31 doi: 10.1016/j.crad.2021.12.006. PMID: 34980460
Minnella GP, Crupano FM, Syngelaki A, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 May;55(5):637-644. doi: 10.1002/uog.21956. PMID: 31875326
Squarcia U, Macchi C
Curr Opin Pediatr 2011 Oct;23(5):518-22. doi: 10.1097/MOP.0b013e32834aa551. PMID: 21849902
D'Andrea V, Malinovsky L, Cavallotti C, Benedetti Valentini F, Malinovska V, Bartolo M, Todini AR, Biancari F, Di Matteo FM, De Antoni E
J Cardiovasc Surg (Torino) 1997 Oct;38(5):447-55. PMID: 9358801
Wilson JG, Brent RL
Am J Obstet Gynecol 1981 Nov 1;141(5):567-80. doi: 10.1016/s0002-9378(15)33279-8. PMID: 6271011

Diagnosis

Minnella GP, Crupano FM, Syngelaki A, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 May;55(5):637-644. doi: 10.1002/uog.21956. PMID: 31875326
Masiwal P, Chenthil KS, Priyadarsini B, Gnanaprakasam J, Srihari I
J Assoc Physicians India 2016 May;64(5):73-75. PMID: 27735157
Rao R, Platt LD
Semin Perinatol 2016 Feb;40(1):67-78. Epub 2016 Jan 8 doi: 10.1053/j.semperi.2015.11.009. PMID: 26777687
Squarcia U, Macchi C
Curr Opin Pediatr 2011 Oct;23(5):518-22. doi: 10.1097/MOP.0b013e32834aa551. PMID: 21849902
D'Andrea V, Malinovsky L, Cavallotti C, Benedetti Valentini F, Malinovska V, Bartolo M, Todini AR, Biancari F, Di Matteo FM, De Antoni E
J Cardiovasc Surg (Torino) 1997 Oct;38(5):447-55. PMID: 9358801

Therapy

Padua MB, Helm BM, Wells JR, Smith AM, Bellchambers HM, Sridhar A, Ware SM
Hum Mol Genet 2023 Jul 4;32(14):2335-2346. doi: 10.1093/hmg/ddad065. PMID: 37158461Free PMC Article
Broberg CS, van Dissel A, Minnier J, Aboulhosn J, Kauling RM, Ginde S, Krieger EV, Rodriguez F 3rd, Gupta T, Shah S, John AS, Cotts T, Kay WA, Kuo M, Dwight C, Woods P, Nicolarsen J, Sarubbi B, Fusco F, Antonova P, Fernandes S, Grewal J, Cramer J, Khairy P, Gallego P, O'Donnell C, Hannah J, Dellborg M, Rodriguez-Monserrate CP, Muhll IV, Pylypchuk S, Magalski A, Han F, Lubert AM, Kay J, Yeung E, Roos-Hesselink J, Baker D, Celermajer DS, Burchill LJ, Wilson WM, Wong J, Kutty S, Opotowsky AR
J Am Coll Cardiol 2022 Sep 6;80(10):951-963. doi: 10.1016/j.jacc.2022.06.020. PMID: 36049802
Wang Z, Dabrosin C, Yin X, Fuster MM, Arreola A, Rathmell WK, Generali D, Nagaraju GP, El-Rayes B, Ribatti D, Chen YC, Honoki K, Fujii H, Georgakilas AG, Nowsheen S, Amedei A, Niccolai E, Amin A, Ashraf SS, Helferich B, Yang X, Guha G, Bhakta D, Ciriolo MR, Aquilano K, Chen S, Halicka D, Mohammed SI, Azmi AS, Bilsland A, Keith WN, Jensen LD
Semin Cancer Biol 2015 Dec;35 Suppl(Suppl):S224-S243. Epub 2015 Jan 16 doi: 10.1016/j.semcancer.2015.01.001. PMID: 25600295Free PMC Article
Stern RS, Rosa F, Baum C
J Am Acad Dermatol 1984 May;10(5 Pt 1):851-4. doi: 10.1016/s0190-9622(84)80142-5. PMID: 6233342
Wilson JG, Brent RL
Am J Obstet Gynecol 1981 Nov 1;141(5):567-80. doi: 10.1016/s0002-9378(15)33279-8. PMID: 6271011

Prognosis

Gontijo B
J Card Surg 2021 Oct;36(10):3662-3664. Epub 2021 Jul 16 doi: 10.1111/jocs.15817. PMID: 34270121
Minnella GP, Crupano FM, Syngelaki A, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 May;55(5):637-644. doi: 10.1002/uog.21956. PMID: 31875326
Bales GS
Clin Anat 2004 Jul;17(5):436-43. doi: 10.1002/ca.10248. PMID: 15176044
Waldman JD, Wernly JA
Pediatr Clin North Am 1999 Apr;46(2):385-404. doi: 10.1016/s0031-3955(05)70125-5. PMID: 10218082
Planche C, Lacour-Gayet F, Serraf A
Pediatr Cardiol 1998 Jul-Aug;19(4):297-307. doi: 10.1007/s002469900313. PMID: 9636253

Clinical prediction guides

Elsayed A, Gilbert K, Scadeng M, Cowan BR, Pushparajah K, Young AA
J Cardiovasc Magn Reson 2021 May 20;23(1):59. doi: 10.1186/s12968-021-00745-0. PMID: 34011372Free PMC Article
Minnella GP, Crupano FM, Syngelaki A, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 May;55(5):637-644. doi: 10.1002/uog.21956. PMID: 31875326
Mcleod G, Shum K, Gupta T, Chakravorty S, Kachur S, Bienvenu L, White M, Shah SB
Prog Cardiovasc Dis 2018 Nov-Dec;61(5-6):468-475. Epub 2018 Nov 13 doi: 10.1016/j.pcad.2018.11.004. PMID: 30445162
Iriart X, Roubertie F, Jalal Z, Thambo JB
Arch Cardiovasc Dis 2016 Feb;109(2):120-7. Epub 2016 Feb 2 doi: 10.1016/j.acvd.2015.11.008. PMID: 26850171
Bales GS
Clin Anat 2004 Jul;17(5):436-43. doi: 10.1002/ca.10248. PMID: 15176044

Recent systematic reviews

Pizula J, Devera J, Ng TMH, Yeung SL, Thangathurai J, Herrick N, Chatfield AJ, Mehra A, Elkayam U
J Am Heart Assoc 2022 Dec 6;11(23):e026862. Epub 2022 Nov 29 doi: 10.1161/JAHA.122.026862. PMID: 36444833Free PMC Article
Cheng S, Li VW, Cheung YF
Echocardiography 2022 Feb;39(2):310-329. Epub 2022 Jan 7 doi: 10.1111/echo.15285. PMID: 34997638
Sandhu K, Pepe S, Smolich JJ, Cheung MMH, Mynard JP
Heart Lung Circ 2021 Nov;30(11):1602-1612. Epub 2021 Aug 20 doi: 10.1016/j.hlc.2021.07.018. PMID: 34420886
Elsayed A, Gilbert K, Scadeng M, Cowan BR, Pushparajah K, Young AA
J Cardiovasc Magn Reson 2021 May 20;23(1):59. doi: 10.1186/s12968-021-00745-0. PMID: 34011372Free PMC Article
Polito A, Ricci Z, Fragasso T, Cogo PE
Cardiol Young 2012 Feb;22(1):1-7. Epub 2011 Nov 9 doi: 10.1017/S1047951111001909. PMID: 22067409

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