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Aortic valve prolapse

MedGen UID:
1619
Concept ID:
C0003505
Disease or Syndrome
Synonyms: Aortic Valve Prolapse; Aortic Valve Prolapses; Prolapse, Aortic Valve; Prolapses, Aortic Valve; Valve Prolapse, Aortic; Valve Prolapses, Aortic
 
HPO: HP:0025578
Monarch Initiative: MONDO:0006655

Definition

Aortic valve prolapse can be diagnosed when either or both of the right or non-coronary aortic valve cusps (seen in the cross sectional echocardiographic long axis view) show backward bowing towards the left ventricle beyond a line joining the points of attachment of the aortic valve leaflets to the annulus. [from HPO]

Conditions with this feature

Braddock-carey syndrome 1
MedGen UID:
1823961
Concept ID:
C5774188
Disease or Syndrome
Braddock-Carey syndrome (BRDCS) is characterized by Pierre-Robin sequence, persistent congenital thrombocytopenia, agenesis of the corpus callosum, severe developmental delay, microcephaly, high forehead, sparse curly hair, downslanting palpebral fissures, telecanthus, inverted U-shaped upper vermilion, enamel hypoplasia, large posteriorly rotated ears, clinodactyly, and camptodactyly (Braddock et al., 2016). Genetic Heterogeneity of Braddock-Carey Syndrome BRDCS2 (619981) is caused by mutation in the KIF15 gene (617569) on chromosome 3p21.

Professional guidelines

PubMed

Li G, Liao H, Wu J, Zhou K, Hua Y, Wang C, Duan H, Shi X, Wu G, Li Y
Medicine (Baltimore) 2020 Aug 21;99(34):e21356. doi: 10.1097/MD.0000000000021356. PMID: 32846756Free PMC Article
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Recent clinical studies

Etiology

Edraki M, Nobakhti M, Naghshzan A, Amoozgar H, Amirghofran A, Ghasemzadeh B, Nirooie E, Mehdizadegan N, Mohammadi H, Keshavarz K
BMC Cardiovasc Disord 2022 Jul 15;22(1):315. doi: 10.1186/s12872-022-02757-9. PMID: 35840901Free PMC Article
Fujiyoshi T, Matsumoto R, Kamiya K, Ogino H
Surg Today 2021 Mar;51(3):384-390. Epub 2020 Aug 10 doi: 10.1007/s00595-020-02100-9. PMID: 32776293
Svensson LG
J Cardiovasc Surg (Torino) 2008 Apr;49(2):297-303. PMID: 18431353
Tweddell JS, Pelech AN, Frommelt PC
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2006:147-52. doi: 10.1053/j.pcsu.2006.02.020. PMID: 16638560
Carr JA, Savage EB
Eur J Cardiothorac Surg 2004 Jan;25(1):6-15. doi: 10.1016/j.ejcts.2003.09.018. PMID: 14690726

Diagnosis

Ghosh S, Sridhar A, Solomon N, Sivaprakasham M
Indian Heart J 2018 Jul-Aug;70(4):528-532. Epub 2017 Nov 27 doi: 10.1016/j.ihj.2017.11.023. PMID: 30170648Free PMC Article
Ugan Atik S, Guler Eroglu A
J Heart Valve Dis 2017 Nov;26(6):616-623. PMID: 30207110
Hu G, Zhu X, Song F
Saudi Med J 2017 Apr;38(4):431-434. doi: 10.15537/smj.2017.4.18761. PMID: 28397952Free PMC Article
Boodhwani M, de Kerchove L, Watremez C, Glineur D, Vanoverschelde JL, Noirhomme P, El Khoury G
J Thorac Cardiovasc Surg 2011 Apr;141(4):917-25. Epub 2011 Feb 3 doi: 10.1016/j.jtcvs.2010.12.006. PMID: 21292284
Van Dyck MJ, Watremez C, Boodhwani M, Vanoverschelde JL, El Khoury G
Anesth Analg 2010 Jul;111(1):59-70. Epub 2010 Jun 3 doi: 10.1213/ANE.0b013e3181dd2579. PMID: 20522704

Therapy

Edraki M, Nobakhti M, Naghshzan A, Amoozgar H, Amirghofran A, Ghasemzadeh B, Nirooie E, Mehdizadegan N, Mohammadi H, Keshavarz K
BMC Cardiovasc Disord 2022 Jul 15;22(1):315. doi: 10.1186/s12872-022-02757-9. PMID: 35840901Free PMC Article
Richardt D, Stierle U, Sievers HH
J Heart Valve Dis 2015 Jan;24(1):4-9. PMID: 26182614
Boodhwani M, de Kerchove L, Watremez C, Glineur D, Vanoverschelde JL, Noirhomme P, El Khoury G
J Thorac Cardiovasc Surg 2011 Apr;141(4):917-25. Epub 2011 Feb 3 doi: 10.1016/j.jtcvs.2010.12.006. PMID: 21292284
Luciani GB
Expert Rev Cardiovasc Ther 2004 Jan;2(1):127-40. doi: 10.1586/14779072.2.1.127. PMID: 15038420
Morganroth J, Jones RH, Chen CC, Naito M
Am J Cardiol 1980 Dec 18;46(7):1164-77. doi: 10.1016/0002-9149(80)90287-8. PMID: 7006361

Prognosis

Ruan Y, Liu X, Meng X, Zhang H, He Y
Medicine (Baltimore) 2020 Apr;99(17):e19827. doi: 10.1097/MD.0000000000019827. PMID: 32332629Free PMC Article
Ghosh S, Sridhar A, Solomon N, Sivaprakasham M
Indian Heart J 2018 Jul-Aug;70(4):528-532. Epub 2017 Nov 27 doi: 10.1016/j.ihj.2017.11.023. PMID: 30170648Free PMC Article
Ugan Atik S, Guler Eroglu A
J Heart Valve Dis 2017 Nov;26(6):616-623. PMID: 30207110
Jeanmart H, de Kerchove L, Glineur D, Goffinet JM, Rougui I, Van Dyck M, Noirhomme P, El Khoury G
Ann Thorac Surg 2007 Feb;83(2):S746-51; discussion S785-90. doi: 10.1016/j.athoracsur.2006.10.089. PMID: 17257920
Eroğlu AG, Oztunç F, Saltik L, Dedeoğlu S, Bakari S, Ahunbay G
Pediatr Cardiol 2003 Jan-Feb;24(1):36-9. Epub 2002 Sep 25 doi: 10.1007/s00246-002-1423-6. PMID: 12360382

Clinical prediction guides

Ruan Y, Liu X, Meng X, Zhang H, He Y
Medicine (Baltimore) 2020 Apr;99(17):e19827. doi: 10.1097/MD.0000000000019827. PMID: 32332629Free PMC Article
Hu G, Zhu X, Song F
Saudi Med J 2017 Apr;38(4):431-434. doi: 10.15537/smj.2017.4.18761. PMID: 28397952Free PMC Article
Tweddell JS, Pelech AN, Frommelt PC
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2006:147-52. doi: 10.1053/j.pcsu.2006.02.020. PMID: 16638560
Luciani GB
Expert Rev Cardiovasc Ther 2004 Jan;2(1):127-40. doi: 10.1586/14779072.2.1.127. PMID: 15038420
Tomaru T, Uchida Y, Mohri N, Mori W, Furuse A, Asano K
Circulation 1987 Jul;76(1):68-76. doi: 10.1161/01.cir.76.1.68. PMID: 3594777

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