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Abnormal morphology of the great vessels

MedGen UID:
1375454
•Concept ID:
C4476878
•
Anatomical Abnormality
HPO: HP:0030962

Definition

A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal morphology of the great vessels

Professional guidelines

PubMed

Surgical Management of Cirsoid Aneurysms of the Scalp: Ten Years' Experience.
ElKiran YM, Abdelgawwad MS, Abdelmaksoud MA, Elwakeel HA, Elshafei AM
World Neurosurg 2021 Jun;150:e756-e764. Epub 2021 Apr 2 doi: 10.1016/j.wneu.2021.03.140. PMID: 33819709
Tracheobronchomalacia, Tracheobronchial Compression, and Tracheobronchial Malformations: Diagnostic and Treatment Strategies.
Kamran A, Baird CW, Jennings RW
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2020;23:53-61. doi: 10.1053/j.pcsu.2020.02.006. PMID: 32354548
Endoglin-based biological therapy in the treatment of angiogenesis-dependent pathologies.
Ollauri-Ibáñez C, López-Novoa JM, Pericacho M
Expert Opin Biol Ther 2017 Sep;17(9):1053-1063. Epub 2017 Jul 10 doi: 10.1080/14712598.2017.1346607. PMID: 28656781

Recent clinical studies

Etiology

Transpositions of the great arteries versus aortic dextropositions. A review of some embryogenetic and morphological aspects.
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
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
Ultrasound screening: Status of markers and efficacy of screening for structural abnormalities.
Rao R, Platt LD
Semin Perinatol 2016 Feb;40(1):67-78. Epub 2016 Jan 8 doi: 10.1053/j.semperi.2015.11.009. PMID: 26777687
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

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
Ivemark Syndrome.
Masiwal P, Chenthil KS, Priyadarsini B, Gnanaprakasam J, Srihari I
J Assoc Physicians India 2016 May;64(5):73-75. PMID: 27735157
Ultrasound screening: Status of markers and efficacy of screening for structural abnormalities.
Rao R, Platt LD
Semin Perinatol 2016 Feb;40(1):67-78. Epub 2016 Jan 8 doi: 10.1053/j.semperi.2015.11.009. PMID: 26777687
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

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
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
Endoglin-based biological therapy in the treatment of angiogenesis-dependent pathologies.
Ollauri-Ibáñez C, López-Novoa JM, Pericacho M
Expert Opin Biol Ther 2017 Sep;17(9):1053-1063. Epub 2017 Jul 10 doi: 10.1080/14712598.2017.1346607. PMID: 28656781
Broad targeting of angiogenesis for cancer prevention and therapy.
Wang Z, Dabrosin C, Yin X, Fuster MM, Arreola A, Rathmell WK, Generali D, Nagaraju GP, El-Rayes B, Ribatti D, Chen YC, Honoki K, Fujii H, Georgakilas AG, Nowsheen S, Amedei A, Niccolai E, Amin A, Ashraf SS, Helferich B, Yang X, Guha G, Bhakta D, Ciriolo MR, Aquilano K, Chen S, Halicka D, Mohammed SI, Azmi AS, Bilsland A, Keith WN, Jensen LD
Semin Cancer Biol 2015 Dec;35 Suppl(Suppl):S224-S243. Epub 2015 Jan 16 doi: 10.1016/j.semcancer.2015.01.001. PMID: 25600295Free PMC Article
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

Growth of the Neo-Aortic Root and Prognosis of Transposition of the Great Arteries.
Sengupta A, Carreon CK, Gauvreau K, Lee JM, Sanders SP, Colan SD, Del Nido PJ, Mayer JE Jr, Nathan M
J Am Coll Cardiol 2024 Jan 30;83(4):516-527. Epub 2023 Nov 6 doi: 10.1016/j.jacc.2023.10.023. PMID: 37939977
Assessment of the incidence of accessory hepatic arteries: a literature review.
Malicki M, Marcinkowska W, Georgiev GP, Zielinska N, Olewnik Ł
Folia Morphol (Warsz) 2022;81(3):533-543. Epub 2021 Oct 5 doi: 10.5603/FM.a2021.0081. PMID: 34608985
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
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

Current Trends in Vascular Biomarkers for Systemic Sclerosis: A Narrative Review.
Fioretto BS, Rosa I, Matucci-Cerinic M, Romano E, Manetti M
Int J Mol Sci 2023 Feb 17;24(4) doi: 10.3390/ijms24044097. PMID: 36835506Free PMC Article
T1 mapping of the myocardium and liver in the single ventricle population.
Beigh MVR, Pajunen KBE, Pagano JJ, Olugbuyi O, Harake DE, Noga ML, Tham EB
Pediatr Radiol 2023 May;53(6):1092-1099. Epub 2022 Dec 21 doi: 10.1007/s00247-022-05560-y. PMID: 36539566
Assessment of the incidence of accessory hepatic arteries: a literature review.
Malicki M, Marcinkowska W, Georgiev GP, Zielinska N, Olewnik Ł
Folia Morphol (Warsz) 2022;81(3):533-543. Epub 2021 Oct 5 doi: 10.5603/FM.a2021.0081. PMID: 34608985
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
Review of the Anatomy of the Distal Anterior Cerebral Artery and Its Anomalies.
Cilliers K, Page BJ
Turk Neurosurg 2016;26(5):653-61. doi: 10.5137/1019-5149.JTN.14294-15.1. PMID: 27337235

Recent systematic reviews

Anomalous Origin of the Right Coronary Artery From the Pulmonary Artery: A Systematic Review.
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
Systematic review and meta-analysis of the anatomic variants of the saphenofemoral junction.
Cirocchi R, Henry BM, Rambotti M, Tomaszewski KA, Cappelli M, Vettorello G, Pistilli A, D'Andrea V, Amato B, Randolph J
J Vasc Surg Venous Lymphat Disord 2019 Jan;7(1):128-138.e7. Epub 2018 Nov 15 doi: 10.1016/j.jvsv.2018.06.006. PMID: 30448153
How often an isolated cardiac disproportion predicts a coarctation of the aorta? Single center experience and systematic review of the literature.
Ghi T, Dall'Asta A, Cavalli C, Galli L, Weiss A, Pedrazzi G, Kaihura CT, Volpe N, Agnetti A, Frusca T
J Matern Fetal Neonatal Med 2018 May;31(10):1350-1357. Epub 2017 Apr 20 doi: 10.1080/14767058.2017.1314459. PMID: 28366040
Diagnosis and treatment of congenital abdominal aortic aneurysm: a systematic review of reported cases.
Wang Y, Tao Y
Orphanet J Rare Dis 2015 Jan 21;10:4. doi: 10.1186/s13023-015-0225-x. PMID: 25608574Free PMC Article
Duplication of the great saphenous vein: a definition problem and implications for therapy.
Kockaert M, de Roos KP, van Dijk L, Nijsten T, Neumann M
Dermatol Surg 2012 Jan;38(1):77-82. Epub 2011 Sep 14 doi: 10.1111/j.1524-4725.2011.02154.x. PMID: 22092751

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