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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
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

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
Aortopathy in Congenital Heart Disease.
Cotts TB, Salciccioli KB, Swanson SK, Yetman AT
Cardiol Clin 2020 Aug;38(3):325-336. Epub 2020 Jun 3 doi: 10.1016/j.ccl.2020.04.002. PMID: 32622488
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
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
Central artery stiffness and thoracic aortopathy.
Humphrey JD, Tellides G
Am J Physiol Heart Circ Physiol 2019 Jan 1;316(1):H169-H182. Epub 2018 Nov 9 doi: 10.1152/ajpheart.00205.2018. PMID: 30412443Free PMC Article

Diagnosis

The ductus arteriosus: a review of embryology to intervention.
May LA, Masand PM, Qureshi AM, Jadhav SP
Pediatr Radiol 2023 Mar;53(3):509-522. Epub 2022 Oct 12 doi: 10.1007/s00247-022-05518-0. PMID: 36221034
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
Aortopathy in Congenital Heart Disease.
Cotts TB, Salciccioli KB, Swanson SK, Yetman AT
Cardiol Clin 2020 Aug;38(3):325-336. Epub 2020 Jun 3 doi: 10.1016/j.ccl.2020.04.002. PMID: 32622488
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

Therapy

Aortic disease in Marfan syndrome is caused by overactivation of sGC-PRKG signaling by NO.
de la Fuente-Alonso A, Toral M, Alfayate A, Ruiz-Rodríguez MJ, Bonzón-Kulichenko E, Teixido-Tura G, Martínez-Martínez S, Méndez-Olivares MJ, López-Maderuelo D, González-Valdés I, Garcia-Izquierdo E, Mingo S, Martín CE, Muiño-Mosquera L, De Backer J, Nistal JF, Forteza A, Evangelista A, Vázquez J, Campanero MR, Redondo JM
Nat Commun 2021 May 11;12(1):2628. doi: 10.1038/s41467-021-22933-3. PMID: 33976159Free PMC Article
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
Post-stenotic aortic dilatation.
Wilton E, Jahangiri M
J Cardiothorac Surg 2006 Mar 3;1:7. doi: 10.1186/1749-8090-1-7. PMID: 16722611Free PMC Article

Prognosis

The science of BAV aortopathy.
Lo Presti F, Guzzardi DG, Bancone C, Fedak PWM, Della Corte A
Prog Cardiovasc Dis 2020 Jul-Aug;63(4):465-474. Epub 2020 Jun 26 doi: 10.1016/j.pcad.2020.06.009. PMID: 32599028
The bicuspid aortic valve: Is it an immunological disease process?
Howard C, Picca L, Smith T, Sharif M, Bashir M, Harky A
J Card Surg 2019 Jun;34(6):482-494. Epub 2019 Apr 23 doi: 10.1111/jocs.14050. PMID: 31012137
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
Coarctation as a deformation.
Rosenberg HS
Pediatr Pathol 1990;10(1-2):103-15. doi: 10.3109/15513819009067100. PMID: 2179916

Clinical prediction guides

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
Aortic valve-related aortopathy: assessing optimal timing of surgical intervention.
Petersen J, Sequeira-Gross T, Naito S, Reichenspurner H, Girdauskas E
Expert Rev Cardiovasc Ther 2019 Oct;17(10):753-761. Epub 2019 Oct 14 doi: 10.1080/14779072.2019.1675511. PMID: 31591904
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
Bicuspid aortic valve-associated aortopathy: update on biomarkers.
Maredia AK, Greenway SC, Verma S, Fedak PWM
Curr Opin Cardiol 2018 Mar;33(2):134-139. doi: 10.1097/HCO.0000000000000481. PMID: 29095713
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

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
Family screening for bicuspid aortic valve and aortic dilatation: a meta-analysis.
Bray JJH, Freer R, Pitcher A, Kharbanda R
Eur Heart J 2023 Sep 1;44(33):3152-3164. doi: 10.1093/eurheartj/ehad320. PMID: 37288540Free PMC Article
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
A systematic review and meta-analysis of exercise and exercise hypertension in patients with aortic coarctation.
Foulds HJA, Giacomantonio NB, Bredin SSD, Warburton DER
J Hum Hypertens 2017 Dec;31(12):768-775. Epub 2017 Aug 3 doi: 10.1038/jhh.2017.55. PMID: 28770819
Balloon Dilatation and Stenting for Aortic Coarctation: A Systematic Review and Meta-Analysis.
Salcher M, Naci H, Law TJ, Kuehne T, Schubert S, Kelm M; Cardioproof Consortium
Circ Cardiovasc Interv 2016 Jun;9(6) doi: 10.1161/CIRCINTERVENTIONS.115.003153. PMID: 27296199

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