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Abnormal aortic arch morphology

MedGen UID:
507002
Concept ID:
C3163801
Congenital Abnormality; Finding
Synonym: Aortic arch abnormalities
SNOMED CT: Abnormality of aortic arch (448742006)
 
HPO: HP:0012303

Definition

An anomaly of the arch of aorta. [from HPO]

Term Hierarchy

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

Professional guidelines

PubMed

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
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
Riambau V, Böckler D, Brunkwall J, Cao P, Chiesa R, Coppi G, Czerny M, Fraedrich G, Haulon S, Jacobs MJ, Lachat ML, Moll FL, Setacci C, Taylor PR, Thompson M, Trimarchi S, Verhagen HJ, Verhoeven EL, Esvs Guidelines Committee, Kolh P, de Borst GJ, Chakfé N, Debus ES, Hinchliffe RJ, Kakkos S, Koncar I, Lindholt JS, Vega de Ceniga M, Vermassen F, Verzini F, Document Reviewers, Kolh P, Black JH 3rd, Busund R, Björck M, Dake M, Dick F, Eggebrecht H, Evangelista A, Grabenwöger M, Milner R, Naylor AR, Ricco JB, Rousseau H, Schmidli J
Eur J Vasc Endovasc Surg 2017 Jan;53(1):4-52. doi: 10.1016/j.ejvs.2016.06.005. PMID: 28081802

Recent clinical studies

Etiology

Mantri SS, Raju B, Jumah F, Rallo MS, Nagaraj A, Khandelwal P, Roychowdhury S, Kung D, Nanda A, Gupta G
Interv Neuroradiol 2022 Aug;28(4):489-498. Epub 2021 Sep 13 doi: 10.1177/15910199211039924. PMID: 34516323Free PMC Article
Haranal M, Srimurugan B, Sivalingam S
Asian Cardiovasc Thorac Ann 2022 Feb;30(2):217-225. Epub 2021 May 6 doi: 10.1177/02184923211015092. PMID: 33957784
Karangelis D, Loggos S, Tzifa A, Mitropoulos FA
Curr Opin Cardiol 2020 Nov;35(6):636-642. doi: 10.1097/HCO.0000000000000793. PMID: 32852349
Goldmuntz E
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):64-72. Epub 2020 Feb 12 doi: 10.1002/ajmg.c.31774. PMID: 32049433
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

Diagnosis

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
Hui DS, Fleischman F
Cardiol Clin 2017 Aug;35(3):347-355. doi: 10.1016/j.ccl.2017.03.012. PMID: 28683906
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
Backer CL, Mongé MC, Popescu AR, Eltayeb OM, Rastatter JC, Rigsby CK
Semin Pediatr Surg 2016 Jun;25(3):165-75. Epub 2016 Feb 22 doi: 10.1053/j.sempedsurg.2016.02.009. PMID: 27301603
Kellenberger CJ
Pediatr Radiol 2010 Jun;40(6):876-84. Epub 2010 Mar 31 doi: 10.1007/s00247-010-1607-9. PMID: 20354848

Therapy

Karangelis D, Loggos S, Tzifa A, Mitropoulos FA
Curr Opin Cardiol 2020 Nov;35(6):636-642. doi: 10.1097/HCO.0000000000000793. PMID: 32852349
Bakalinis E, Makris I, Demesticha T, Tsakotos G, Skandalakis P, Filippou D
Acta Med Acad 2018 Nov;47(2):186-192. doi: 10.5644/ama2006-124.230. PMID: 30585070
Riambau V, Böckler D, Brunkwall J, Cao P, Chiesa R, Coppi G, Czerny M, Fraedrich G, Haulon S, Jacobs MJ, Lachat ML, Moll FL, Setacci C, Taylor PR, Thompson M, Trimarchi S, Verhagen HJ, Verhoeven EL, Esvs Guidelines Committee, Kolh P, de Borst GJ, Chakfé N, Debus ES, Hinchliffe RJ, Kakkos S, Koncar I, Lindholt JS, Vega de Ceniga M, Vermassen F, Verzini F, Document Reviewers, Kolh P, Black JH 3rd, Busund R, Björck M, Dake M, Dick F, Eggebrecht H, Evangelista A, Grabenwöger M, Milner R, Naylor AR, Ricco JB, Rousseau H, Schmidli J
Eur J Vasc Endovasc Surg 2017 Jan;53(1):4-52. doi: 10.1016/j.ejvs.2016.06.005. PMID: 28081802
Jonas RA
Semin Thorac Cardiovasc Surg 2015 Summer;27(2):177-88. Epub 2015 Jun 14 doi: 10.1053/j.semtcvs.2015.04.003. PMID: 26686446
Wilton E, Jahangiri M
J Cardiothorac Surg 2006 Mar 3;1:7. doi: 10.1186/1749-8090-1-7. PMID: 16722611Free PMC Article

Prognosis

Ctori E, Crucean A, Pinkey B, McGuirk SP, Anderson RH, Stickley J, Jones TJ, Seale AN
Arch Dis Child 2021 Apr 21;106(5):477-483. doi: 10.1136/archdischild-2020-319388. PMID: 33106229
Matakas JD, Gold MM, Sterman J, Haramati LB, Allen MT, Labovitz D, Slasky SE
J Am Heart Assoc 2020 Jul 7;9(13):e015390. Epub 2020 Jun 17 doi: 10.1161/JAHA.119.015390. PMID: 32552234Free PMC Article
Li S, Wen H, Liang M, Luo D, Qin Y, Liao Y, Ouyang S, Bi J, Tian X, Norwitz ER, Luo G
Cardiovasc Pathol 2019 Mar-Apr;39:38-50. Epub 2018 Dec 6 doi: 10.1016/j.carpath.2018.11.004. PMID: 30623879
Clerici G, Giulietti E, Babucci G, Chaoui R
J Matern Fetal Neonatal Med 2018 Sep;31(18):2381-2387. Epub 2017 Jul 4 doi: 10.1080/14767058.2017.1342807. PMID: 28614967
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

Clinical prediction guides

Thiene G, Rizzo S, Basso C
Cardiovasc Pathol 2024 May-Jun;70:107604. Epub 2024 Jan 20 doi: 10.1016/j.carpath.2024.107604. PMID: 38253300
Ctori E, Crucean A, Pinkey B, McGuirk SP, Anderson RH, Stickley J, Jones TJ, Seale AN
Arch Dis Child 2021 Apr 21;106(5):477-483. doi: 10.1136/archdischild-2020-319388. PMID: 33106229
Fletcher AJ, Syed MBJ, Aitman TJ, Newby DE, Walker NL
Circulation 2020 May 12;141(19):1570-1587. Epub 2020 May 11 doi: 10.1161/CIRCULATIONAHA.119.043756. PMID: 32392100Free PMC Article
Li S, Wen H, Liang M, Luo D, Qin Y, Liao Y, Ouyang S, Bi J, Tian X, Norwitz ER, Luo G
Cardiovasc Pathol 2019 Mar-Apr;39:38-50. Epub 2018 Dec 6 doi: 10.1016/j.carpath.2018.11.004. PMID: 30623879
Maredia AK, Greenway SC, Verma S, Fedak PWM
Curr Opin Cardiol 2018 Mar;33(2):134-139. doi: 10.1097/HCO.0000000000000481. PMID: 29095713

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
Konstantinou N, Antonopoulos CN, Tzanis K, Kölbel T, Peterß S, Pichlmaier M, Stana J, Tsilimparis N
Eur J Vasc Endovasc Surg 2022 May;63(5):759-767. Epub 2022 Feb 25 doi: 10.1016/j.ejvs.2022.02.027. PMID: 35459610
Popieluszko P, Henry BM, Sanna B, Hsieh WC, Saganiak K, Pękala PA, Walocha JA, Tomaszewski KA
J Vasc Surg 2018 Jul;68(1):298-306.e10. Epub 2017 Aug 31 doi: 10.1016/j.jvs.2017.06.097. PMID: 28865978
D'Antonio F, Khalil A, Zidere V, Carvalho JS
Ultrasound Obstet Gynecol 2016 Apr;47(4):423-32. Epub 2016 Mar 16 doi: 10.1002/uog.15805. PMID: 26643657
von Kodolitsch Y, Aydin AM, Bernhardt AM, Habermann C, Treede H, Reichenspurner H, Meinertz T, Dodge-Khatami A
Vasa 2010 Feb;39(1):3-16. doi: 10.1024/0301-1526/a000001. PMID: 20186672

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