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Abnormal aortic morphology

MedGen UID:
871269
Concept ID:
C4025756
Anatomical Abnormality
Synonyms: Abnormal aorta morphology; Abnormality of the aorta
 
HPO: HP:0001679

Definition

An abnormality of the aorta. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal aortic morphology

Professional guidelines

PubMed

Moncla LM, Briend M, Bossé Y, Mathieu P
Nat Rev Cardiol 2023 Aug;20(8):546-559. Epub 2023 Feb 24 doi: 10.1038/s41569-023-00845-7. PMID: 36829083
Morris CA, Braddock SR; COUNCIL ON GENETICS
Pediatrics 2020 Feb;145(2) Epub 2020 Jan 21 doi: 10.1542/peds.2019-3761. PMID: 31964759
MacCarrick G, Black JH 3rd, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, Sponseller PD, Loeys B, Dietz HC 3rd
Genet Med 2014 Aug;16(8):576-87. Epub 2014 Feb 27 doi: 10.1038/gim.2014.11. PMID: 24577266Free PMC Article

Recent clinical studies

Etiology

Gaudino M, Di Franco A, Arbustini E, Bacha E, Bates ER, Cameron DE, Cao D, David TE, De Paulis R, El-Hamamsy I, Farooqi KM, Girardi LN, Gräni C, Kochav JD, Molossi S, Puskas JD, Rao SV, Sandner S, Tatoulis J, Truong QA, Weinsaft JW, Zimpfer D, Mery CM
J Am Coll Cardiol 2023 Nov 21;82(21):2034-2053. Epub 2023 Oct 16 doi: 10.1016/j.jacc.2023.08.012. PMID: 37855757
Cotts TB, Salciccioli KB, Swanson SK, Yetman AT
Cardiol Clin 2020 Aug;38(3):325-336. Epub 2020 Jun 3 doi: 10.1016/j.ccl.2020.04.002. PMID: 32622488
Yoshimura N, Fukahara K, Yamashita A, Doi T, Yamashita S, Homma T, Yokoyama S, Aoki M, Higashida A, Shimada Y, Toritsuka D, Nagao K, Ikeno Y
Surg Today 2020 Oct;50(10):1151-1158. Epub 2019 Nov 1 doi: 10.1007/s00595-019-01907-5. PMID: 31676999
Miśkowiec D, Lipiec P, Szymczyk E, Wejner-Mik P, Michalski B, Kupczyńska K, Wierzbowska-Drabik K, Kasprzak JD
Echocardiography 2018 May;35(5):667-677. Epub 2018 Feb 4 doi: 10.1111/echo.13818. PMID: 29399873
Salcher M, Naci H, Law TJ, Kuehne T, Schubert S, Kelm M; Cardioproof Consortium
Circ Cardiovasc Interv 2016 Jun;9(6) doi: 10.1161/CIRCINTERVENTIONS.115.003153. PMID: 27296199

Diagnosis

Gaudino M, Di Franco A, Arbustini E, Bacha E, Bates ER, Cameron DE, Cao D, David TE, De Paulis R, El-Hamamsy I, Farooqi KM, Girardi LN, Gräni C, Kochav JD, Molossi S, Puskas JD, Rao SV, Sandner S, Tatoulis J, Truong QA, Weinsaft JW, Zimpfer D, Mery CM
J Am Coll Cardiol 2023 Nov 21;82(21):2034-2053. Epub 2023 Oct 16 doi: 10.1016/j.jacc.2023.08.012. PMID: 37855757
Cotts TB, Salciccioli KB, Swanson SK, Yetman AT
Cardiol Clin 2020 Aug;38(3):325-336. Epub 2020 Jun 3 doi: 10.1016/j.ccl.2020.04.002. PMID: 32622488
Yoshimura N, Fukahara K, Yamashita A, Doi T, Yamashita S, Homma T, Yokoyama S, Aoki M, Higashida A, Shimada Y, Toritsuka D, Nagao K, Ikeno Y
Surg Today 2020 Oct;50(10):1151-1158. Epub 2019 Nov 1 doi: 10.1007/s00595-019-01907-5. PMID: 31676999
Hanneman K, Newman B, Chan F
Radiographics 2017 Jan-Feb;37(1):32-51. Epub 2016 Nov 18 doi: 10.1148/rg.2017160033. PMID: 27860551
Kellenberger CJ
Pediatr Radiol 2010 Jun;40(6):876-84. Epub 2010 Mar 31 doi: 10.1007/s00247-010-1607-9. PMID: 20354848

Therapy

Salcher M, Naci H, Law TJ, Kuehne T, Schubert S, Kelm M; Cardioproof Consortium
Circ Cardiovasc Interv 2016 Jun;9(6) doi: 10.1161/CIRCINTERVENTIONS.115.003153. PMID: 27296199
Tretter JT, Jones TK, McElhinney DB
Circ Cardiovasc Interv 2015 Sep;8(9):e002840. doi: 10.1161/CIRCINTERVENTIONS.115.002840. PMID: 26291468
Zanjani KS, Niwa K
J Cardiol 2013 Jan;61(1):16-21. Epub 2012 Nov 21 doi: 10.1016/j.jjcc.2012.08.018. PMID: 23177793
Wilton E, Jahangiri M
J Cardiothorac Surg 2006 Mar 3;1:7. doi: 10.1186/1749-8090-1-7. PMID: 16722611Free PMC Article
Israel G, Krinsky G, Lee V
Clin Imaging 2002 Mar-Apr;26(2):116-21. doi: 10.1016/s0899-7071(01)00368-0. PMID: 11852219

Prognosis

Michelena HI, Della Corte A, Evangelista A, Maleszewski JJ, Edwards WD, Roman MJ, Devereux RB, Fernández B, Asch FM, Barker AJ, Sierra-Galan LM, De Kerchove L, Fernandes SM, Fedak PWM, Girdauskas E, Delgado V, Abbara S, Lansac E, Prakash SK, Bissell MM, Popescu BA, Hope MD, Sitges M, Thourani VH, Pibarot P, Chandrasekaran K, Lancellotti P, Borger MA, Forrest JK, Webb J, Milewicz DM, Makkar R, Leon MB, Sanders SP, Markl M, Ferrari VA, Roberts WC, Song JK, Blanke P, White CS, Siu S, Svensson LG, Braverman AC, Bavaria J, Sundt TM, El Khoury G, De Paulis R, Enriquez-Sarano M, Bax JJ, Otto CM, Schäfers HJ
J Thorac Cardiovasc Surg 2021 Sep;162(3):e383-e414. Epub 2021 Jul 22 doi: 10.1016/j.jtcvs.2021.06.019. PMID: 34304896
Hanneman K, Newman B, Chan F
Radiographics 2017 Jan-Feb;37(1):32-51. Epub 2016 Nov 18 doi: 10.1148/rg.2017160033. PMID: 27860551
Raimondi F, Bonnet D
Diagn Interv Imaging 2016 May;97(5):561-9. Epub 2016 Apr 26 doi: 10.1016/j.diii.2016.03.009. PMID: 27132711
Langley SM, Sunstrom RE, Reed RD, Rekito AJ, Gerrah R
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2013;16(1):43-51. doi: 10.1053/j.pcsu.2013.01.008. PMID: 23561817
Rosenberg HS
Pediatr Pathol 1990;10(1-2):103-15. doi: 10.3109/15513819009067100. PMID: 2179916

Clinical prediction guides

Michelena HI, Della Corte A, Evangelista A, Maleszewski JJ, Edwards WD, Roman MJ, Devereux RB, Fernández B, Asch FM, Barker AJ, Sierra-Galan LM, De Kerchove L, Fernandes SM, Fedak PWM, Girdauskas E, Delgado V, Abbara S, Lansac E, Prakash SK, Bissell MM, Popescu BA, Hope MD, Sitges M, Thourani VH, Pibarot P, Chandrasekaran K, Lancellotti P, Borger MA, Forrest JK, Webb J, Milewicz DM, Makkar R, Leon MB, Sanders SP, Markl M, Ferrari VA, Roberts WC, Song JK, Blanke P, White CS, Siu S, Svensson LG, Braverman AC, Bavaria J, Sundt TM, El Khoury G, De Paulis R, Enriquez-Sarano M, Bax JJ, Otto CM, Schäfers HJ
J Thorac Cardiovasc Surg 2021 Sep;162(3):e383-e414. Epub 2021 Jul 22 doi: 10.1016/j.jtcvs.2021.06.019. PMID: 34304896
Sabatino J, Wicik Z, De Rosa S, Eyileten C, Jakubik D, Spaccarotella C, Mongiardo A, Postula M, Indolfi C
J Mol Cell Cardiol 2019 Sep;134:98-106. Epub 2019 Jul 3 doi: 10.1016/j.yjmcc.2019.07.001. PMID: 31278905
Miśkowiec D, Lipiec P, Szymczyk E, Wejner-Mik P, Michalski B, Kupczyńska K, Wierzbowska-Drabik K, Kasprzak JD
Echocardiography 2018 May;35(5):667-677. Epub 2018 Feb 4 doi: 10.1111/echo.13818. PMID: 29399873
Naito S, Hillebrand M, Bernhardt AMJ, Jagodzinski A, Conradi L, Detter C, Sydow K, Reichenspurner H, Kodolitsch YV, Girdauskas E
Thorac Cardiovasc Surg 2018 Jun;66(4):278-286. Epub 2016 May 5 doi: 10.1055/s-0036-1583525. PMID: 27148933
McKay R
Orphanet J Rare Dis 2007 Oct 8;2:41. doi: 10.1186/1750-1172-2-41. PMID: 17922908Free PMC Article

Recent systematic reviews

Gaudino M, Di Franco A, Arbustini E, Bacha E, Bates ER, Cameron DE, Cao D, David TE, De Paulis R, El-Hamamsy I, Farooqi KM, Girardi LN, Gräni C, Kochav JD, Molossi S, Puskas JD, Rao SV, Sandner S, Tatoulis J, Truong QA, Weinsaft JW, Zimpfer D, Mery CM
J Am Coll Cardiol 2023 Nov 21;82(21):2034-2053. Epub 2023 Oct 16 doi: 10.1016/j.jacc.2023.08.012. PMID: 37855757
Miśkowiec D, Lipiec P, Szymczyk E, Wejner-Mik P, Michalski B, Kupczyńska K, Wierzbowska-Drabik K, Kasprzak JD
Echocardiography 2018 May;35(5):667-677. Epub 2018 Feb 4 doi: 10.1111/echo.13818. PMID: 29399873
Salcher M, Naci H, Law TJ, Kuehne T, Schubert S, Kelm M; Cardioproof Consortium
Circ Cardiovasc Interv 2016 Jun;9(6) doi: 10.1161/CIRCINTERVENTIONS.115.003153. PMID: 27296199
Singh S, Hakim FA, Sharma A, Roy RR, Panse PM, Chandrasekaran K, Alegria JR, Mookadam F
Heart Lung Circ 2015 Feb;24(2):110-8. Epub 2014 Aug 23 doi: 10.1016/j.hlc.2014.08.006. PMID: 25442062
Abdulkareem N, Smelt J, Jahangiri M
Interact Cardiovasc Thorac Surg 2013 Sep;17(3):554-9. Epub 2013 May 31 doi: 10.1093/icvts/ivt196. PMID: 23728086Free PMC Article

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