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Abnormal aortic physiology

MedGen UID:
1388814
•Concept ID:
C4476880
•
Finding
HPO: HP:0030964

Professional guidelines

PubMed

Calcific aortic valve disease: mechanisms, prevention and treatment.
Moncla LM, Briend M, Bossé Y, Mathieu P
Nat Rev Cardiol 2023 Aug;20(8):546-559. Epub 2023 Feb 24 doi: 10.1038/s41569-023-00845-7. PMID: 36829083
Epidemiology and management of aortic disease: aortic aneurysms and acute aortic syndromes.
Bossone E, Eagle KA
Nat Rev Cardiol 2021 May;18(5):331-348. Epub 2020 Dec 22 doi: 10.1038/s41569-020-00472-6. PMID: 33353985
Loeys-Dietz syndrome: a primer for diagnosis and management.
MacCarrick G, Black JH 3rd, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, Sponseller PD, Loeys B, Dietz HC 3rd
Genet Med 2014 Aug;16(8):576-87. Epub 2014 Feb 27 doi: 10.1038/gim.2014.11. PMID: 24577266Free PMC Article

Recent clinical studies

Etiology

Aortic Coarctation.
Kim YY, Andrade L, Cook SC
Cardiol Clin 2020 Aug;38(3):337-351. Epub 2020 May 31 doi: 10.1016/j.ccl.2020.04.003. PMID: 32622489
22q11.2 deletion syndrome and congenital heart disease.
Goldmuntz E
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):64-72. Epub 2020 Feb 12 doi: 10.1002/ajmg.c.31774. PMID: 32049433
Management and Anesthetic Considerations for Patients With Anomalous Aortic Origin of a Coronary Artery.
Kloesel B, Richtsfeld M, Konia M, Bass JL
Semin Cardiothorac Vasc Anesth 2018 Dec;22(4):383-394. Epub 2018 Aug 10 doi: 10.1177/1089253218793888. PMID: 30095030
Preoperative Physiology, Imaging, and Management of Interrupted Aortic Arch.
Friedman K
Semin Cardiothorac Vasc Anesth 2018 Sep;22(3):265-269. Epub 2018 Apr 12 doi: 10.1177/1089253218770198. PMID: 29649938
The Value of Circulating Biomarkers in Bicuspid Aortic Valve-Associated Aortopathy.
Naito S, Hillebrand M, Bernhardt AMJ, Jagodzinski A, Conradi L, Detter C, Sydow K, Reichenspurner H, Kodolitsch YV, Girdauskas E
Thorac Cardiovasc Surg 2018 Jun;66(4):278-286. Epub 2016 May 5 doi: 10.1055/s-0036-1583525. PMID: 27148933

Diagnosis

PHACES-like syndrome with TMEM260 compound heterozygous variants.
Kuroda Y, Saito Y, Enomoto Y, Naruto T, Mitsui J, Kurosawa K
Am J Med Genet A 2023 Aug;191(8):2215-2218. Epub 2023 May 14 doi: 10.1002/ajmg.a.63245. PMID: 37183566
Aortic Coarctation.
Kim YY, Andrade L, Cook SC
Cardiol Clin 2020 Aug;38(3):337-351. Epub 2020 May 31 doi: 10.1016/j.ccl.2020.04.003. PMID: 32622489
Preoperative Physiology, Imaging, and Management of Interrupted Aortic Arch.
Friedman K
Semin Cardiothorac Vasc Anesth 2018 Sep;22(3):265-269. Epub 2018 Apr 12 doi: 10.1177/1089253218770198. PMID: 29649938
The Value of Circulating Biomarkers in Bicuspid Aortic Valve-Associated Aortopathy.
Naito S, Hillebrand M, Bernhardt AMJ, Jagodzinski A, Conradi L, Detter C, Sydow K, Reichenspurner H, Kodolitsch YV, Girdauskas E
Thorac Cardiovasc Surg 2018 Jun;66(4):278-286. Epub 2016 May 5 doi: 10.1055/s-0036-1583525. PMID: 27148933
Hurricane aorta.
Manka R, Binter C, Kozerke S
Lancet 2014 Dec 13;384(9960):2141. Epub 2014 Sep 18 doi: 10.1016/S0140-6736(14)60752-2. PMID: 25242035

Therapy

Fetal cardiac interventions: Where do we stand?
Friedman KG, Tworetzky W
Arch Cardiovasc Dis 2020 Feb;113(2):121-128. Epub 2020 Feb 26 doi: 10.1016/j.acvd.2019.06.007. PMID: 32113817
Aortic Valve Interventions in Pediatric Patients.
Bouhout I, Ba PS, El-Hamamsy I, Poirier N
Semin Thorac Cardiovasc Surg 2019 Summer;31(2):277-287. Epub 2018 Nov 2 doi: 10.1053/j.semtcvs.2018.10.009. PMID: 30391499
The eye in CHD.
Nasir-Ahmad S, Cordina R, Liew G, McCluskey P, Celermajer D
Cardiol Young 2018 Aug;28(8):981-985. doi: 10.1017/S1047951118000859. PMID: 30043722
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).
Erbel R, Aboyans V, Boileau C, Bossone E, Bartolomeo RD, Eggebrecht H, Evangelista A, Falk V, Frank H, Gaemperli O, Grabenwöger M, Haverich A, Iung B, Manolis AJ, Meijboom F, Nienaber CA, Roffi M, Rousseau H, Sechtem U, Sirnes PA, Allmen RS, Vrints CJ; ESC Committee for Practice Guidelines
Eur Heart J 2014 Nov 1;35(41):2873-926. Epub 2014 Aug 29 doi: 10.1093/eurheartj/ehu281. PMID: 25173340
Turner syndrome: diagnosis and management.
Morgan T
Am Fam Physician 2007 Aug 1;76(3):405-10. PMID: 17708142

Prognosis

Management and Anesthetic Considerations for Patients With Anomalous Aortic Origin of a Coronary Artery.
Kloesel B, Richtsfeld M, Konia M, Bass JL
Semin Cardiothorac Vasc Anesth 2018 Dec;22(4):383-394. Epub 2018 Aug 10 doi: 10.1177/1089253218793888. PMID: 30095030
The Value of Circulating Biomarkers in Bicuspid Aortic Valve-Associated Aortopathy.
Naito S, Hillebrand M, Bernhardt AMJ, Jagodzinski A, Conradi L, Detter C, Sydow K, Reichenspurner H, Kodolitsch YV, Girdauskas E
Thorac Cardiovasc Surg 2018 Jun;66(4):278-286. Epub 2016 May 5 doi: 10.1055/s-0036-1583525. PMID: 27148933
Aortic dissection.
Nienaber CA, Clough RE, Sakalihasan N, Suzuki T, Gibbs R, Mussa F, Jenkins MP, Thompson MM, Evangelista A, Yeh JS, Cheshire N, Rosendahl U, Pepper J
Nat Rev Dis Primers 2016 Jul 21;2:16053. doi: 10.1038/nrdp.2016.53. PMID: 27440162
The hemi-Fontan operation.
Jacobs ML, Pourmoghadam KK
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2003;6:90-7. doi: 10.1053/pcsu.2003.50007. PMID: 12740775
Coarctation as a deformation.
Rosenberg HS
Pediatr Pathol 1990;10(1-2):103-15. doi: 10.3109/15513819009067100. PMID: 2179916

Clinical prediction guides

Patterns of co-occurring birth defects in children with anotia and microtia.
Schraw JM, Benjamin RH, Shumate CJ, Canfield MA, Scott DA, McLean SD, Northrup H, Scheuerle AE, Schaaf CP, Ray JW, Chen H, Agopian AJ, Lupo PJ
Am J Med Genet A 2023 Mar;191(3):805-812. Epub 2022 Dec 21 doi: 10.1002/ajmg.a.63081. PMID: 36541232Free PMC Article
Genetics and mechanisms of thoracic aortic disease.
Chou E, Pirruccello JP, Ellinor PT, Lindsay ME
Nat Rev Cardiol 2023 Mar;20(3):168-180. Epub 2022 Sep 21 doi: 10.1038/s41569-022-00763-0. PMID: 36131050
MicroRNAs fingerprint of bicuspid aortic valve.
Sabatino J, Wicik Z, De Rosa S, Eyileten C, Jakubik D, Spaccarotella C, Mongiardo A, Postula M, Indolfi C
J Mol Cell Cardiol 2019 Sep;134:98-106. Epub 2019 Jul 3 doi: 10.1016/j.yjmcc.2019.07.001. PMID: 31278905
Topsy-turvy heart and associated imaging findings.
Bayramoglu Z, Yılmaz R, Demir AA, Yekeler E, Dursun M, Dindar A, Nisli K, Omeroglu R
J Cardiovasc Comput Tomogr 2017 Sep-Oct;11(5):417-418. Epub 2017 Apr 20 doi: 10.1016/j.jcct.2017.04.008. PMID: 28438441
Effects of aortic irregularities on blood flow.
Prahl Wittberg L, van Wyk S, Fuchs L, Gutmark E, Backeljauw P, Gutmark-Little I
Biomech Model Mechanobiol 2016 Apr;15(2):345-60. Epub 2015 Jun 25 doi: 10.1007/s10237-015-0692-y. PMID: 26104133Free PMC Article

Recent systematic reviews

Natural history of adults with KBG syndrome: A physician-reported experience.
Bayat A, Grimes H, de Boer E, Herlin MK, Dahl RS, Lund ICB, Bayat M, Bolund ACS, Gjerulfsen CE, Gregersen PA, Zilmer M, Juhl S, Cebula K, Rahikkala E, Maystadt I, Peron A, Vignoli A, Alfano RM, Stanzial F, Benedicenti F, Currò A, Luk HM, Jouret G, Zurita E, Heuft L, Schnabel F, Busche A, Veenstra-Knol HE, Tkemaladze T, Vrielynck P, Lederer D, Platzer K, Ockeloen CW, Goel H, Low KJ
Genet Med 2024 Aug;26(8):101170. Epub 2024 May 27 doi: 10.1016/j.gim.2024.101170. PMID: 38818797
Clinical features and complications of Loeys-Dietz syndrome: A systematic review.
Gouda P, Kay R, Habib M, Aziz A, Aziza E, Welsh R
Int J Cardiol 2022 Sep 1;362:158-167. Epub 2022 Jun 1 doi: 10.1016/j.ijcard.2022.05.065. PMID: 35662564
Factors Predisposing to Hypertension in Subjects Formerly Born Preterm: Renal Impairment, Arterial Stiffness, Endothelial Dysfunction or Something Else?
Crisafulli A, Bassareo PP, Kelleher S, Calcaterra G, Mercuro G
Curr Hypertens Rev 2020;16(2):82-90. doi: 10.2174/1573402115666190627140523. PMID: 31244440Free PMC Article
Aortic Valve Interventions in Pediatric Patients.
Bouhout I, Ba PS, El-Hamamsy I, Poirier N
Semin Thorac Cardiovasc Surg 2019 Summer;31(2):277-287. Epub 2018 Nov 2 doi: 10.1053/j.semtcvs.2018.10.009. PMID: 30391499
Treatment Strategies for Paradoxical Hypertension Following Surgical Correction of Coarctation of the Aorta in Children.
Roeleveld PP, Zwijsen EG
World J Pediatr Congenit Heart Surg 2017 May;8(3):321-331. doi: 10.1177/2150135117690104. PMID: 28520538Free PMC Article

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