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Quadricuspid aortic valve

MedGen UID:
576685
Concept ID:
C0345002
Congenital Abnormality
Synonyms: Aortic Valve, Quadricuspid; Congenital Quadricuspid Aortic Valve; Quadricuspid Aortic Valve; Quadricuspid Aortic Valve Condition; Quadricuspid Aortic Valve Disease; Quadricuspid Aortic Valve Disorder; Quadricuspid Aortic Valves; Quadricuspid Aortic Valvular Disease
SNOMED CT: Quadricuspid aortic valve (253611000)
 
HPO: HP:0031655

Definition

The presence of an aortic valve with four instead of the normal three cusps (flaps). [from HPO]

Term Hierarchy

Conditions with this feature

Ehlers-Danlos syndrome due to tenascin-X deficiency
MedGen UID:
336244
Concept ID:
C1848029
Disease or Syndrome
The clinical features of TNXB-related classical-like Ehlers-Danlos syndrome (clEDS) strongly resemble those seen in classic EDS (cEDS). Affected individuals have generalized joint hypermobility, hyperextensible skin, and easy bruising, but do not have atrophic scarring, as is seen in cEDS. There are also several other distinguishing clinical findings including anomalies of feet and hands, edema in the legs in the absence of cardiac failure, mild proximal and distal muscle weakness, and axonal polyneuropathy. Vaginal, uterine, and/or rectal prolapse can also occur. Tissue fragility with resulting rupture of the trachea, esophagus, and small and large bowel has been reported. Vascular fragility causing a major event occurs in a minority of individuals. Significant variability in the severity of musculoskeletal symptoms and their effect on day-to-day function between unrelated affected individuals as well as among affected individuals in the same family has been reported. Fatigue has been reported in more than half of affected individuals. The severity of symptoms in middle-aged individuals can range from joint hypermobility without complications to being wheelchair-bound as a result of severe and painful foot deformities and fatigue.

Professional guidelines

Recent clinical studies

Etiology

Berger T, Zimmer E, Kondov S, Siepe M
Multimed Man Cardiothorac Surg 2022 May 16;2022 doi: 10.1510/mmcts.2022.022. PMID: 35671233
Fernández B, Soto-Navarrete MT, López-García A, López-Unzu MÁ, Durán AC, Fernández MC
Vet Pathol 2020 Mar;57(2):321-331. Epub 2020 Feb 21 doi: 10.1177/0300985819900018. PMID: 32079504
Arumugam S, Lam KY, Akca F, van Straten BHM
J Card Surg 2017 Sep;32(9):579-580. doi: 10.1111/jocs.13197. PMID: 28880469
Tsang MY, Abudiab MM, Ammash NM, Naqvi TZ, Edwards WD, Nkomo VT, Pellikka PA
Circulation 2016 Jan 19;133(3):312-9. Epub 2015 Dec 3 doi: 10.1161/CIRCULATIONAHA.115.017743. PMID: 26635401
Hanratty D, Farode O, Ionescu A, Youhana A
Eur J Cardiothorac Surg 2012 Sep;42(3):597. Epub 2012 Jun 26 doi: 10.1093/ejcts/ezs182. PMID: 22736692

Diagnosis

Jain A, Kharge J, Manjunath CN, Shrimanth YS
J Invasive Cardiol 2023 Sep;35(9) doi: 10.25270/jic/22.00325. PMID: 37983112
Veronese ET, Brandão CMA, Steffen SP, Pomerantzeff P, Jatene FB
Braz J Cardiovasc Surg 2019 Dec 1;34(5):637-639. doi: 10.21470/1678-9741-2018-0125. PMID: 31719017Free PMC Article
Tatari H, Dehaki MG, Omrani G, Ghaheri H, Al-Dairy A, Mortezaeian H
Asian Cardiovasc Thorac Ann 2018 Nov;26(9):704-706. Epub 2017 Jan 29 doi: 10.1177/0218492317692467. PMID: 28132534
Yuan SM
Braz J Cardiovasc Surg 2016 Nov-Dec;31(6):454-460. doi: 10.5935/1678-9741.20160090. PMID: 28076624Free PMC Article
Holm H, Jacobson S, Reul GJ, Stainback RF
Tex Heart Inst J 2004;31(4):450-1. PMID: 15745305Free PMC Article

Therapy

Zhang W, Guan LN, Wang BZ, Huo Q
J Card Surg 2022 Dec;37(12):5595-5598. Epub 2022 Nov 24 doi: 10.1111/jocs.17196. PMID: 36423255
Ascaso M, Pruna-Guillen R, Hernández-Meneses M, Sandoval E, Quintana E
Asian Cardiovasc Thorac Ann 2022 Feb;30(2):202-204. Epub 2021 Jan 14 doi: 10.1177/0218492321989208. PMID: 33444069
Zhou D, Fan J, Liu X, Wang J
J Invasive Cardiol 2021 Oct;33(10):E839-E840. doi: 10.25270/jic/21.00140. PMID: 34609332
Lin Y, Yin K, Wang Y, Yang D, Luo R, Dong L, Zhang Z, Wang C
J Surg Res 2018 Sep;229:223-229. Epub 2018 May 1 doi: 10.1016/j.jss.2018.04.003. PMID: 29936994
Jackson C, Sarwar T, Hwang I, Joglekar K, Alsafwah S
J Clin Ultrasound 2018 Feb;46(2):145-148. Epub 2017 May 8 doi: 10.1002/jcu.22495. PMID: 28862762

Prognosis

Fernández B, Soto-Navarrete MT, López-García A, López-Unzu MÁ, Durán AC, Fernández MC
Vet Pathol 2020 Mar;57(2):321-331. Epub 2020 Feb 21 doi: 10.1177/0300985819900018. PMID: 32079504
Arumugam S, Lam KY, Akca F, van Straten BHM
J Card Surg 2017 Sep;32(9):579-580. doi: 10.1111/jocs.13197. PMID: 28880469
Tsang MY, Abudiab MM, Ammash NM, Naqvi TZ, Edwards WD, Nkomo VT, Pellikka PA
Circulation 2016 Jan 19;133(3):312-9. Epub 2015 Dec 3 doi: 10.1161/CIRCULATIONAHA.115.017743. PMID: 26635401
Schutt RC, Maragiannis D, Shah G
Methodist Debakey Cardiovasc J 2015 Jul-Sep;11(3):196. doi: 10.14797/mdcj-11-3-196. PMID: 26634032Free PMC Article
Hanratty D, Farode O, Ionescu A, Youhana A
Eur J Cardiothorac Surg 2012 Sep;42(3):597. Epub 2012 Jun 26 doi: 10.1093/ejcts/ezs182. PMID: 22736692

Clinical prediction guides

Holthe J, Javed R, Cetta F, Stephens EH, Johnson JN, Hagler DJ, Niaz T
World J Pediatr Congenit Heart Surg 2024 Sep;15(5):621-627. Epub 2024 Jul 25 doi: 10.1177/21501351241247515. PMID: 39053477
Zhang J, Li Y, Fang F, Wan J, Xia Z, Han Y, Jiang S, Lv B, Zhi A, Tse G, Chan JSK, Zhang S, Pan X, Zhang G
J Cardiovasc Comput Tomogr 2024 Mar-Apr;18(2):179-186. Epub 2024 Jan 22 doi: 10.1016/j.jcct.2024.01.008. PMID: 38262851
Soares FR, Branco C, Coutinho GF, Prieto D, Antunes MJ
Rev Port Cardiol (Engl Ed) 2021 Jan;40(1):63.e1-63.e5. Epub 2020 Dec 10 doi: 10.1016/j.repc.2018.04.012. PMID: 33309128
Feuchtner GM
J Cardiovasc Comput Tomogr 2020 Nov-Dec;14(6):e109-e110. Epub 2019 Jul 5 doi: 10.1016/j.jcct.2019.06.013. PMID: 31296409
Scioti G, Di Gregorio O, Milano A, Nardi C, Tartarini G, Bortolotti U
Thorac Cardiovasc Surg 1998 Oct;46(5):304-6. doi: 10.1055/s-2007-1010244. PMID: 9885124

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