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Abnormal aortic valve physiology

MedGen UID:
1637769
•Concept ID:
C4703464
•
Disease or Syndrome
HPO: HP:0031652

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

Genetics in bicuspid aortic valve disease: Where are we?
Bravo-Jaimes K, Prakash SK
Prog Cardiovasc Dis 2020 Jul-Aug;63(4):398-406. Epub 2020 Jun 27 doi: 10.1016/j.pcad.2020.06.005. PMID: 32599026Free PMC Article
Heartbeat: Improving diagnosis and management of aortic valve disease.
Otto CM
Heart 2018 Nov;104(22):1807-1809. doi: 10.1136/heartjnl-2018-314232. PMID: 30366931
Carpenter syndrome.
Hidestrand P, Vasconez H, Cottrill C
J Craniofac Surg 2009 Jan;20(1):254-6. doi: 10.1097/SCS.0b013e318184357a. PMID: 19165041
Bicuspid aortic valve.
Williams DS
J Insur Med 2006;38(1):72-4. PMID: 16642647
Recent advances in cardiac surgery.
Norwood WI, Pigott JD
Pediatr Clin North Am 1985 Oct;32(5):1117-24. doi: 10.1016/s0031-3955(16)34896-9. PMID: 3897982

Diagnosis

Genetics in bicuspid aortic valve disease: Where are we?
Bravo-Jaimes K, Prakash SK
Prog Cardiovasc Dis 2020 Jul-Aug;63(4):398-406. Epub 2020 Jun 27 doi: 10.1016/j.pcad.2020.06.005. PMID: 32599026Free PMC Article
Heartbeat: Improving diagnosis and management of aortic valve disease.
Otto CM
Heart 2018 Nov;104(22):1807-1809. doi: 10.1136/heartjnl-2018-314232. PMID: 30366931
Acute aortic dissection: pathogenesis, risk factors and diagnosis.
Gawinecka J, Schönrath F, von Eckardstein A
Swiss Med Wkly 2017;147:w14489. Epub 2017 Aug 25 doi: 10.4414/smw.2017.14489. PMID: 28871571
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
Quantification of AS and AR.
Mehta Y, Singh R
Ann Card Anaesth 2009 Jul-Dec;12(2):166. doi: 10.4103/0971-9784.53437. PMID: 19602746

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
Heartbeat: Improving diagnosis and management of aortic valve disease.
Otto CM
Heart 2018 Nov;104(22):1807-1809. doi: 10.1136/heartjnl-2018-314232. PMID: 30366931
Calcific aortic stenosis.
Lindman BR, Clavel MA, Mathieu P, Iung B, Lancellotti P, Otto CM, Pibarot P
Nat Rev Dis Primers 2016 Mar 3;2:16006. doi: 10.1038/nrdp.2016.6. PMID: 27188578Free PMC Article
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

Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.
Mansoorshahi S, Yetman AT, Bissell MM, Kim YY, Michelena HI, De Backer J, Mosquera LM, Hui DS, Caffarelli A, Andreassi MG, Foffa I, Guo D, Citro R, De Marco M, Tretter JT, Morris SA, Body SC, Chong JX, Bamshad MJ; University of Washington Center for Rare Disease Research; BAVCon Investigators; EBAV Investigators, Milewicz DM, Prakash SK
Am J Hum Genet 2024 Oct 3;111(10):2219-2231. Epub 2024 Sep 2 doi: 10.1016/j.ajhg.2024.08.001. PMID: 39226896Free PMC Article
Heartbeat: Improving diagnosis and management of aortic valve disease.
Otto CM
Heart 2018 Nov;104(22):1807-1809. doi: 10.1136/heartjnl-2018-314232. PMID: 30366931
Reexamining remodeling.
Schäfers HJ, Raddatz A, Schmied W, Takahashi H, Miura Y, Kunihara T, Aicher D
J Thorac Cardiovasc Surg 2015 Feb;149(2 Suppl):S30-6. Epub 2014 Sep 18 doi: 10.1016/j.jtcvs.2014.09.048. PMID: 25439784
Carpenter syndrome.
Hidestrand P, Vasconez H, Cottrill C
J Craniofac Surg 2009 Jan;20(1):254-6. doi: 10.1097/SCS.0b013e318184357a. PMID: 19165041
Techniques for repairing the aortic and truncal valves.
Backer CL
Cardiol Young 2005 Feb;15 Suppl 1:125-31. doi: 10.1017/s1047951105001150. PMID: 15934704

Clinical prediction guides

Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.
Mansoorshahi S, Yetman AT, Bissell MM, Kim YY, Michelena HI, De Backer J, Mosquera LM, Hui DS, Caffarelli A, Andreassi MG, Foffa I, Guo D, Citro R, De Marco M, Tretter JT, Morris SA, Body SC, Chong JX, Bamshad MJ; University of Washington Center for Rare Disease Research; BAVCon Investigators; EBAV Investigators, Milewicz DM, Prakash SK
Am J Hum Genet 2024 Oct 3;111(10):2219-2231. Epub 2024 Sep 2 doi: 10.1016/j.ajhg.2024.08.001. PMID: 39226896Free PMC Article
Conduction System Abnormalities After Transcatheter Aortic Valve Replacement: Mechanism, Prediction, and Management.
Judson GL, Agrawal H, Mahadevan VS
Interv Cardiol Clin 2019 Oct;8(4):403-409. Epub 2019 Jul 27 doi: 10.1016/j.iccl.2019.06.003. PMID: 31445724
Heartbeat: Improving diagnosis and management of aortic valve disease.
Otto CM
Heart 2018 Nov;104(22):1807-1809. doi: 10.1136/heartjnl-2018-314232. PMID: 30366931
How to Image Congenital Left Heart Obstruction in Adults.
Krieger EV, Stout KK, Grosse-Wortmann L
Circ Cardiovasc Imaging 2017 May;10(5) doi: 10.1161/CIRCIMAGING.116.004271. PMID: 28495822
Reexamining remodeling.
Schäfers HJ, Raddatz A, Schmied W, Takahashi H, Miura Y, Kunihara T, Aicher D
J Thorac Cardiovasc Surg 2015 Feb;149(2 Suppl):S30-6. Epub 2014 Sep 18 doi: 10.1016/j.jtcvs.2014.09.048. PMID: 25439784

Recent systematic reviews

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
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
Haemodynamic assessment of bicuspid aortic valve aortopathy: a systematic review of the current literature.
Edlin J, Youssefi P, Bilkhu R, Figueroa CA, Morgan R, Nowell J, Jahangiri M
Eur J Cardiothorac Surg 2019 Apr 1;55(4):610-617. doi: 10.1093/ejcts/ezy312. PMID: 30239633
Bicuspid aortic valve aortopathy: genetics, pathophysiology and medical therapy.
Abdulkareem N, Smelt J, Jahangiri M
Interact Cardiovasc Thorac Surg 2013 Sep;17(3):554-9. Epub 2013 May 31 doi: 10.1093/icvts/ivt196. PMID: 23728086Free PMC Article

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