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Congenital malformation of the great arteries

MedGen UID:
852566
Concept ID:
C0478012
Congenital Abnormality
HPO: HP:0011603

Definition

Defect or defects of the morphogenesis of the aorta and pulmonary arteries. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital malformation of the great arteries

Professional guidelines

PubMed

Kowalik E
Expert Rev Cardiovasc Ther 2023 Jun;21(6):389-396. Epub 2023 May 9 doi: 10.1080/14779072.2023.2211264. PMID: 37143366
Carazo M, Andrade L, Kim Y, Wilson W, Wu FM
Heart Fail Rev 2020 Jul;25(4):609-621. doi: 10.1007/s10741-020-09914-2. PMID: 31970551
Connolly HM, Miranda WR, Egbe AC, Warnes CA
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2019;22:61-65. doi: 10.1053/j.pcsu.2019.02.006. PMID: 31027566

Recent clinical studies

Etiology

Restivo A, di Gioia C, Marino B, Putotto C
Anat Rec (Hoboken) 2023 Mar;306(3):502-514. Epub 2022 Dec 9 doi: 10.1002/ar.25129. PMID: 36426596
Chowdhury UK, Anderson RH, Spicer DE, Sankhyan LK, George N, Pandey NN, Goja S, Chandhirasekar B
J Card Surg 2022 Nov;37(11):3813-3824. Epub 2022 Sep 18 doi: 10.1111/jocs.16889. PMID: 36116113
Schierz IAM, Piro E, Giuffrè M, Pinello G, Angelini A, Antona V, Cimador M, Corsello G
J Matern Fetal Neonatal Med 2022 Dec;35(23):4513-4520. Epub 2020 Dec 1 doi: 10.1080/14767058.2020.1854213. PMID: 36062518
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
Squarcia U, Macchi C
Curr Opin Pediatr 2011 Oct;23(5):518-22. doi: 10.1097/MOP.0b013e32834aa551. PMID: 21849902

Diagnosis

Jacobs JP, DeCampli WM, Karamlou T, Najm HK, Marino BS, Blackstone EH, McCrindle BW, Jegatheeswaran A, St Louis JD, Austin EH 3rd, Caldarone CA, Mavroudis C, Overman DM, Dearani JA, Jacobs ML, Tchervenkov CI, Svensson LG, Barron D, Kirklin JK, Williams WG
World J Pediatr Congenit Heart Surg 2023 Sep;14(5):602-619. doi: 10.1177/21501351231190916. PMID: 37737599
Schierz IAM, Piro E, Giuffrè M, Pinello G, Angelini A, Antona V, Cimador M, Corsello G
J Matern Fetal Neonatal Med 2022 Dec;35(23):4513-4520. Epub 2020 Dec 1 doi: 10.1080/14767058.2020.1854213. PMID: 36062518
Shen H, He Q, Shao X, Li S, Zhou Z
J Am Heart Assoc 2022 Feb;11(3):e023181. Epub 2022 Jan 8 doi: 10.1161/JAHA.121.023181. PMID: 35001652Free PMC Article
Secinaro A, Curione D, Mortensen KH, Santangelo TP, Ciancarella P, Napolitano C, Del Pasqua A, Taylor AM, Ciliberti P
Pediatr Radiol 2019 Dec;49(13):1823-1839. Epub 2019 Aug 22 doi: 10.1007/s00247-019-04494-2. PMID: 31440884
Squarcia U, Macchi C
Curr Opin Pediatr 2011 Oct;23(5):518-22. doi: 10.1097/MOP.0b013e32834aa551. PMID: 21849902

Therapy

Breinholt JP, John S
Methodist Debakey Cardiovasc J 2019 Apr-Jun;15(2):133-137. doi: 10.14797/mdcj-15-2-133. PMID: 31384376Free PMC Article
Kutty S, Danford DA, Diller GP, Tutarel O
Heart 2018 Jul;104(14):1148-1155. Epub 2018 Jan 11 doi: 10.1136/heartjnl-2016-311032. PMID: 29326110
Ravishankar C
Pediatr Crit Care Med 2016 Aug;17(8 Suppl 1):S344-6. doi: 10.1097/PCC.0000000000000825. PMID: 27490621
Wernovsky G
Pediatr Crit Care Med 2016 Aug;17(8 Suppl 1):S337-43. doi: 10.1097/PCC.0000000000000819. PMID: 27490620
Latham GJ, Joffe DC, Eisses MJ, Richards MJ, Geiduschek JM
Semin Cardiothorac Vasc Anesth 2015 Sep;19(3):233-42. Epub 2015 Apr 21 doi: 10.1177/1089253215581852. PMID: 25900898

Prognosis

Chowdhury UK, Anderson RH, Spicer DE, Sankhyan LK, George N, Pandey NN, Goja S, Chandhirasekar B
J Card Surg 2022 Nov;37(11):3813-3824. Epub 2022 Sep 18 doi: 10.1111/jocs.16889. PMID: 36116113
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
Shen H, He Q, Shao X, Li S, Zhou Z
J Am Heart Assoc 2022 Feb;11(3):e023181. Epub 2022 Jan 8 doi: 10.1161/JAHA.121.023181. PMID: 35001652Free PMC Article
Wallis GA, Debich-Spicer D, Anderson RH
Orphanet J Rare Dis 2011 May 14;6:22. doi: 10.1186/1750-1172-6-22. PMID: 21569592Free PMC Article
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

Schierz IAM, Piro E, Giuffrè M, Pinello G, Angelini A, Antona V, Cimador M, Corsello G
J Matern Fetal Neonatal Med 2022 Dec;35(23):4513-4520. Epub 2020 Dec 1 doi: 10.1080/14767058.2020.1854213. PMID: 36062518
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
Antonová P, Rohn V, Chaloupecky V, Simkova I, Kaldararova M, Zeman J, Popelova J, Havova M, Janousek J
Heart 2022 Nov 10;108(23):1881-1886. doi: 10.1136/heartjnl-2021-320035. PMID: 35851319
Contro E, Cattani L, Balducci A, Prandstraller D, Perolo A, Larcher L, Reggiani MLB, Farina A, Donti A, Gargiulo GD, Pilu G
J Matern Fetal Neonatal Med 2022 Nov;35(22):4299-4305. Epub 2020 Nov 17 doi: 10.1080/14767058.2020.1849109. PMID: 33203263
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

Recent systematic reviews

Wan X, Wei S, Wang Y, Jiang J, Lian X, Zou Z, Li J
Sci Total Environ 2023 Sep 20;892:164431. Epub 2023 Jun 1 doi: 10.1016/j.scitotenv.2023.164431. PMID: 37268121
Anzai I, Zhao Y, Dimagli A, Pearsall C, LaForest M, Bacha E, Kalfa D
World J Pediatr Congenit Heart Surg 2023 Jan;14(1):70-76. doi: 10.1177/21501351221127894. PMID: 36847766
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
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
Hansen T, Henriksen TB, Bach CC, Matthiesen NB
Pediatr Neurol 2017 Jul;72:7-18.e1. Epub 2017 Apr 1 doi: 10.1016/j.pediatrneurol.2017.03.014. PMID: 28549654

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