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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

Impact of Tracheal Arborization and Lung Hypoplasia in Repair of Pulmonary Artery Sling in Combination With Long-Segment Tracheal Stenosis.
Rudrappa SC, Beeman A, Ramaswamy M, Khambadkone S, Derrick G, Kostolny M, Calder A, Muthialu N
World J Pediatr Congenit Heart Surg 2023 Mar;14(2):134-140. Epub 2023 Feb 14 doi: 10.1177/21501351221145172. PMID: 36788380
Accuracy of fetal echocardiography diagnosis and anticipated perinatal and early postnatal care in congenital heart disease in mid-gestation.
Nurmi MO, Pitkänen-Argillander O, Räsänen J, Sarkola T
Acta Obstet Gynecol Scand 2022 Oct;101(10):1112-1119. Epub 2022 Jul 12 doi: 10.1111/aogs.14423. PMID: 35818931Free PMC Article
Lung Hypoplasia Associated With Ring-Sling Complex Is Usually Right-Sided.
Ramaswamy M, Rudrappa S, Beeman A, Heatwole A, McIntosh N, McIntyre D, Hewitt R, Muthialu N
Ann Thorac Surg 2022 Mar;113(3):884-888. Epub 2021 Feb 16 doi: 10.1016/j.athoracsur.2021.01.059. PMID: 33607054
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
Geometry and growth of the reconstructed aorta in patients with hypoplastic left heart syndrome and variants.
Haller C, Chetan D, Saedi A, Parker R, Van Arsdell GS, Honjo O
J Thorac Cardiovasc Surg 2017 Jun;153(6):1479-1487.e1. Epub 2017 Feb 14 doi: 10.1016/j.jtcvs.2017.02.011. PMID: 28291606

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
Living with functionally univentricular heart: beating the odds?
Alpat S, Demircin M
Asian Cardiovasc Thorac Ann 2018 Nov;26(9):694-696. Epub 2017 Feb 1 doi: 10.1177/0218492317692468. PMID: 29214833
Ivemark Syndrome.
Masiwal P, Chenthil KS, Priyadarsini B, Gnanaprakasam J, Srihari I
J Assoc Physicians India 2016 May;64(5):73-75. PMID: 27735157
Coronary artery anomalies diagnosed by magnetic resonance angiography.
Welker M, Salanitri J, Deshpande VS, Shea SM, Li D, Pereles FS
Australas Radiol 2006 Apr;50(2):114-21. doi: 10.1111/j.1440-1673.2006.01541.x. PMID: 16635028

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
Comparative analysis of patients undergoing lower extremity bypass using in-situ and reversed great saphenous vein graft techniques.
Chang H, Veith FJ, Rockman CB, Maldonado TS, Jacobowitz GR, Cayne NS, Garg K
Vascular 2023 Oct;31(5):931-940. Epub 2022 Apr 22 doi: 10.1177/17085381221088082. PMID: 35452333
Accuracy of fetal echocardiography diagnosis and anticipated perinatal and early postnatal care in congenital heart disease in mid-gestation.
Nurmi MO, Pitkänen-Argillander O, Räsänen J, Sarkola T
Acta Obstet Gynecol Scand 2022 Oct;101(10):1112-1119. Epub 2022 Jul 12 doi: 10.1111/aogs.14423. PMID: 35818931Free PMC Article
Geometry and growth of the reconstructed aorta in patients with hypoplastic left heart syndrome and variants.
Haller C, Chetan D, Saedi A, Parker R, Van Arsdell GS, Honjo O
J Thorac Cardiovasc Surg 2017 Jun;153(6):1479-1487.e1. Epub 2017 Feb 14 doi: 10.1016/j.jtcvs.2017.02.011. PMID: 28291606
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

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
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
Coronary artery anomalies diagnosed by magnetic resonance angiography.
Welker M, Salanitri J, Deshpande VS, Shea SM, Li D, Pereles FS
Australas Radiol 2006 Apr;50(2):114-21. doi: 10.1111/j.1440-1673.2006.01541.x. PMID: 16635028

Clinical prediction guides

Accuracy of fetal echocardiography diagnosis and anticipated perinatal and early postnatal care in congenital heart disease in mid-gestation.
Nurmi MO, Pitkänen-Argillander O, Räsänen J, Sarkola T
Acta Obstet Gynecol Scand 2022 Oct;101(10):1112-1119. Epub 2022 Jul 12 doi: 10.1111/aogs.14423. PMID: 35818931Free 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
Geometry and growth of the reconstructed aorta in patients with hypoplastic left heart syndrome and variants.
Haller C, Chetan D, Saedi A, Parker R, Van Arsdell GS, Honjo O
J Thorac Cardiovasc Surg 2017 Jun;153(6):1479-1487.e1. Epub 2017 Feb 14 doi: 10.1016/j.jtcvs.2017.02.011. PMID: 28291606
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
Fontan completion in infants.
Pizarro C, Mroczek T, Gidding SS, Murphy JD, Norwood WI
Ann Thorac Surg 2006 Jun;81(6):2243-8; discussion 2248-9. doi: 10.1016/j.athoracsur.2006.01.016. PMID: 16731161

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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