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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

Konstantinov IE, Chai P, Bacha E, Caldarone CA, Da Silva JP, Da Fonseca Da Silva L, Dearani J, Hornberger L, Knott-Craig C, Del Nido P, Qureshi M, Sarris G, Starnes V, Tsang V
J Thorac Cardiovasc Surg 2024 Aug;168(2):311-324. Epub 2024 Apr 27 doi: 10.1016/j.jtcvs.2024.04.018. PMID: 38685467
Young AA, Sinclair BG
Can J Cardiol 2020 Oct;36(10):1564-1565. Epub 2020 Mar 12 doi: 10.1016/j.cjca.2020.03.009. PMID: 32663459
Fuster V, Brandenburg RO, McGoon DC, Giuliani ER
Cardiovasc Clin 1980;10(3):161-97. PMID: 6991111

Recent clinical studies

Etiology

Lee MGY, Russo JJ, Norman S, Binny SD, Joshi SB, Eastaugh L, Grigg LE, Wilson WM
JACC Cardiovasc Interv 2023 Nov 13;16(21):2670-2672. Epub 2023 Sep 20 doi: 10.1016/j.jcin.2023.08.023. PMID: 37737799
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
van der Palen RLF, van der Zee C, Vink AS, Knobbe I, Jurgens SJ, van Leeuwen E, Bax CJ, du Marchie Sarvaas GJ, Blom NA, Haak MC, Bilardo CM, Clur SB
Prenat Diagn 2019 Nov;39(12):1054-1063. Epub 2019 Aug 7 doi: 10.1002/pd.5539. PMID: 31351016Free PMC Article
Squarcia U, Macchi C
Curr Opin Pediatr 2011 Oct;23(5):518-22. doi: 10.1097/MOP.0b013e32834aa551. PMID: 21849902

Diagnosis

Ashton DJ, Greenberg SB
Semin Roentgenol 2020 Jul;55(3):312-319. Epub 2020 Jun 24 doi: 10.1053/j.ro.2020.06.006. PMID: 32859347
van der Palen RLF, van der Zee C, Vink AS, Knobbe I, Jurgens SJ, van Leeuwen E, Bax CJ, du Marchie Sarvaas GJ, Blom NA, Haak MC, Bilardo CM, Clur SB
Prenat Diagn 2019 Nov;39(12):1054-1063. Epub 2019 Aug 7 doi: 10.1002/pd.5539. PMID: 31351016Free PMC Article
Crean A
Heart 2007 Dec;93(12):1637-47. doi: 10.1136/hrt.2006.104729. PMID: 18003697Free PMC Article
Wernovsky G, Sanders SP
Coron Artery Dis 1993 Feb;4(2):148-57. doi: 10.1097/00019501-199302000-00005. PMID: 8269206
Fuster V, Brandenburg RO, McGoon DC, Giuliani ER
Cardiovasc Clin 1980;10(3):161-97. PMID: 6991111

Therapy

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
van der Palen RLF, van der Zee C, Vink AS, Knobbe I, Jurgens SJ, van Leeuwen E, Bax CJ, du Marchie Sarvaas GJ, Blom NA, Haak MC, Bilardo CM, Clur SB
Prenat Diagn 2019 Nov;39(12):1054-1063. Epub 2019 Aug 7 doi: 10.1002/pd.5539. PMID: 31351016Free PMC Article
Wu QY, Li DH, Xue H, Xu ZH, Li HY, Zhang MK
Chin Med J (Engl) 2016 Oct 5;129(19):2381-3. doi: 10.4103/0366-6999.190663. PMID: 27647199Free PMC Article
Ravishankar C
Pediatr Crit Care Med 2016 Aug;17(8 Suppl 1):S344-6. doi: 10.1097/PCC.0000000000000825. PMID: 27490621
Andrews RE, Yates RW, Sullivan ID
Semin Pediatr Surg 2015 Oct;24(5):217-20. Epub 2015 Jul 9 doi: 10.1053/j.sempedsurg.2015.07.003. PMID: 26382259

Prognosis

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
van der Palen RLF, van der Zee C, Vink AS, Knobbe I, Jurgens SJ, van Leeuwen E, Bax CJ, du Marchie Sarvaas GJ, Blom NA, Haak MC, Bilardo CM, Clur SB
Prenat Diagn 2019 Nov;39(12):1054-1063. Epub 2019 Aug 7 doi: 10.1002/pd.5539. PMID: 31351016Free 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
Wernovsky G, Sanders SP
Coron Artery Dis 1993 Feb;4(2):148-57. doi: 10.1097/00019501-199302000-00005. PMID: 8269206

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
van Broekhoven I, Kroft LJM, van der Palen RLF
Heart 2020 Jun;106(12):891-950. doi: 10.1136/heartjnl-2019-316504. PMID: 32461258
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
Plauth WH Jr, Nadas AS, Bernhard WF, Gross RE
Circulation 1968 Mar;37(3):316-30. doi: 10.1161/01.cir.37.3.316. PMID: 4170882

Recent systematic reviews

Jacob KA, Hörer J, Hraska V, Agbor VN, Duchateau S, van Wijk A, Barron DJ, Schoof PH
J Am Coll Cardiol 2024 Dec 17;84(25):2471-2486. Epub 2024 Nov 20 doi: 10.1016/j.jacc.2024.07.056. PMID: 39570245
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
Guenther TM, Sherazee EA, Wisneski AD, Gustafson JD, Wozniak CJ, Raff GW
Ann Thorac Surg 2020 Sep;110(3):1063-1071. Epub 2020 Mar 7 doi: 10.1016/j.athoracsur.2020.01.082. PMID: 32156586
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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