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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

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
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

Recent clinical studies

Etiology

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
Anomalous Aortic Origin of a Coronary Artery is Always a Surgical Disease.
Vouhé PR
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2016;19(1):25-9. doi: 10.1053/j.pcsu.2015.12.007. PMID: 27060039
Cor triatriatum sinister.
Kadner A, Meszaros K, Mueller C, Schoenhoff F, Hutter D, Carrel T
Multimed Man Cardiothorac Surg 2014;2014 Epub 2014 May 30 doi: 10.1093/mmcts/mmu005. PMID: 24878580
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

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
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

Therapy

Beyond a Passive Conduit: Implications of Lymphatic Biology for Kidney Diseases.
Jafree DJ, Long DA
J Am Soc Nephrol 2020 Jun;31(6):1178-1190. Epub 2020 Apr 15 doi: 10.1681/ASN.2019121320. PMID: 32295825Free 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
Cor triatriatum sinister.
Kadner A, Meszaros K, Mueller C, Schoenhoff F, Hutter D, Carrel T
Multimed Man Cardiothorac Surg 2014;2014 Epub 2014 May 30 doi: 10.1093/mmcts/mmu005. PMID: 24878580

Prognosis

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
Anomalous Aortic Origin of a Coronary Artery is Always a Surgical Disease.
Vouhé PR
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2016;19(1):25-9. doi: 10.1053/j.pcsu.2015.12.007. PMID: 27060039
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

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
Duplication of the inferior vena cava: evidence of a novel type IV.
Klinkhachorn PS, Ritz BK, Umstot SI, Skrzat J, Zdilla MJ
Folia Med Cracov 2020 Sep 28;60(2):5-13. doi: 10.24425/fmc.2020.135009. PMID: 33252591
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
Why is placentation abnormal in preeclampsia?
Fisher SJ
Am J Obstet Gynecol 2015 Oct;213(4 Suppl):S115-22. doi: 10.1016/j.ajog.2015.08.042. PMID: 26428489Free PMC Article

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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