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Malformation of the heart and great vessels

MedGen UID:
808094
•Concept ID:
CN221285
•
Disease or Syndrome

Professional guidelines

PubMed

Human Laterality Disorders: Pathogenesis, Clinical Manifestations, Diagnosis, and Management.
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
Assessment and management of heart failure in the systemic right ventricle.
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
Genetics and genetic testing in congenital heart disease.
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

Recent clinical studies

Etiology

CT of transposition of the great arteries in adults.
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
Diagnosis of major heart defects by routine first-trimester ultrasound examination: association with increased nuchal translucency, tricuspid regurgitation and abnormal flow in ductus venosus.
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
Contemporary management and outcomes in congenitally corrected transposition of the great arteries.
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
Perioperative Management of DORV.
Spaeth JP
Semin Cardiothorac Vasc Anesth 2014 Sep;18(3):281-9. Epub 2014 Mar 21 doi: 10.1177/1089253214528048. PMID: 24659409
Transposition of the great arteries.
Squarcia U, Macchi C
Curr Opin Pediatr 2011 Oct;23(5):518-22. doi: 10.1097/MOP.0b013e32834aa551. PMID: 21849902

Diagnosis

CT evaluation of unrepaired/incidental congenital cardiovascular diseases in adults.
Bedayat A, Jalili MH, Hassani C, Chalian H, Reuhm S, Moriarty J
Diagn Interv Imaging 2021 Apr;102(4):213-224. Epub 2020 Oct 21 doi: 10.1016/j.diii.2020.09.011. PMID: 34102129
Diagnosis of major heart defects by routine first-trimester ultrasound examination: association with increased nuchal translucency, tricuspid regurgitation and abnormal flow in ductus venosus.
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
Ivemark Syndrome.
Masiwal P, Chenthil KS, Priyadarsini B, Gnanaprakasam J, Srihari I
J Assoc Physicians India 2016 May;64(5):73-75. PMID: 27735157
Transposition of the great arteries.
Squarcia U, Macchi C
Curr Opin Pediatr 2011 Oct;23(5):518-22. doi: 10.1097/MOP.0b013e32834aa551. PMID: 21849902
Congenitally corrected transposition.
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

Therapy

Congenital heart defects caused by FOXJ1.
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
Predictors of mortality after atrial correction of transposition of the great arteries.
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
State of the Art: Tissue Engineering in Congenital Heart Surgery.
Boyd R, Parisi F, Kalfa D
Semin Thorac Cardiovasc Surg 2019 Winter;31(4):807-817. Epub 2019 Jun 6 doi: 10.1053/j.semtcvs.2019.05.023. PMID: 31176798
Isotretinoin and pregnancy.
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
Calcification of the heart and great vessels.
Freundlich IM, Lind TA
CRC Crit Rev Clin Radiol Nucl Med 1975 Apr;6(2):171-216. PMID: 238789

Prognosis

Congenitally Corrected Transposition of the Great Arteries: Fetal Diagnosis, Associations, and Postnatal Outcome: A Fetal Heart Society Research Collaborative Study.
Cohen J, Arya B, Caplan R, Donofrio MT, Ferdman D, Harrington JK, Ho DY, Hogan W, Hornberger LK, Jhaveri S, Killen SAS, Lindblade CL, Michelfelder E, Moon-Grady AJ, Patel S, Quezada E, Ronai C, Sanchez Mejia AA, Schidlow DN, Stiver C, Thakur V, Srivastava S
J Am Heart Assoc 2023 Jun 6;12(11):e029706. Epub 2023 Jun 1 doi: 10.1161/JAHA.122.029706. PMID: 37259984Free PMC Article
Diagnosis of major heart defects by routine first-trimester ultrasound examination: association with increased nuchal translucency, tricuspid regurgitation and abnormal flow in ductus venosus.
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
STRUCTURAL HEART ANOMALIES (REVIEW).
Osovska N, Kuzminova N, Ovcharuk M, Serhiychuk O
Georgian Med News 2016 Jun;(255):66-77. PMID: 27441539
Pitfalls in repair of conotruncal anomalies.
Raisky O, Vouhé PR
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2013;16(1):7-12. doi: 10.1053/j.pcsu.2013.02.001. PMID: 23561812
Congenitally corrected transposition.
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

Clinical prediction guides

Management considerations in the adult with surgically modified d-transposition of the great arteries.
Gaur L, Cedars A, Diller GP, Kutty S, Orwat S
Heart 2021 Oct;107(20):1613-1619. Epub 2021 Mar 19 doi: 10.1136/heartjnl-2020-318833. PMID: 33741578
Diagnosis of major heart defects by routine first-trimester ultrasound examination: association with increased nuchal translucency, tricuspid regurgitation and abnormal flow in ductus venosus.
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
The Impact of Technology on the Diagnosis of Congenital Malformations.
Straub L, Huybrechts KF, Bateman BT, Mogun H, Gray KJ, Holmes LB, Hernandez-Diaz S
Am J Epidemiol 2019 Nov 1;188(11):1892-1901. doi: 10.1093/aje/kwz153. PMID: 31241162Free PMC Article
Echocardiography in Congenital Heart Disease.
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
Quantification of systemic right ventricle by echocardiography.
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

Recent systematic reviews

Diagnostic accuracy of prenatal ultrasound in coarctation of aorta: systematic review and individual participant data meta-analysis.
Villalaín C, D'Antonio F, Flacco ME, Gómez-Montes E, Herraiz I, Deiros-Bronte L, Maskatia SA, Phillips AA, Contro E, Fricke K, Bhawna A, Beattie MJ, Moon-Grady AJ, Durand I, Slodki M, Respondek-Liberska M, Patel C, Kawamura H, Rizzo G, Pagani G, Galindo A
Ultrasound Obstet Gynecol 2024 Apr;63(4):446-456. Epub 2024 Mar 9 doi: 10.1002/uog.27576. PMID: 38197327
Long-term outcome of patients with transposition of the great arteries and a systemic right ventricle: A systematic review and meta-analysis.
Ansari Ramandi MM, Yarmohammadi H, Gareb B, Voors AA, van Melle JP
Int J Cardiol 2023 Oct 15;389:131159. Epub 2023 Jul 9 doi: 10.1016/j.ijcard.2023.131159. PMID: 37433408
The association between maternal air pollution exposure and the incidence of congenital heart diseases in children: A systematic review and meta-analysis.
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
Outcome of Pregnancy in Women With D-Transposition of the Great Arteries: A Systematic Review.
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
Arterial Stiffness in Congenital Heart Disease.
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

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