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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

Miyake T, Inoue T, Mushiake S
Curr Cardiol Rev 2023;19(2):e220322202505. doi: 10.2174/1573403X18666220322092706. PMID: 35319379Free PMC Article
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
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
Plaunova A, Gulkarov I, Tortolani AJ, Worku B
J Heart Valve Dis 2015 Mar;24(2):260-2. PMID: 26204696

Diagnosis

Jain A, Kharge J, Manjunath CN, Shrimanth YS
J Invasive Cardiol 2023 Sep;35(9) doi: 10.25270/jic/22.00325. PMID: 37983112
Miyake T, Inoue T, Mushiake S
Curr Cardiol Rev 2023;19(2):e220322202505. doi: 10.2174/1573403X18666220322092706. PMID: 35319379Free PMC Article
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
Yuan SM
Braz J Cardiovasc Surg 2016 Nov-Dec;31(6):454-460. doi: 10.5935/1678-9741.20160090. PMID: 28076624Free PMC Article
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

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. 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

Goodman AM, Amirjamshidi H, Ziazadeh DR, Jones AS, Hisamoto K
J Cardiothorac Surg 2023 Feb 7;18(1):63. doi: 10.1186/s13019-023-02164-x. PMID: 36750908Free PMC Article
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
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
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

Clinical prediction guides

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
Tsuji S, Shimada S, Itoda Y, Yamauchi H, Ono M
J Cardiothorac Surg 2022 Jun 7;17(1):146. doi: 10.1186/s13019-022-01900-z. PMID: 35672828Free PMC Article
Uehara K, Matsuda H, Yokawa K, Inoue Y, Shijo T, Seike Y, Sasaki H
Gen Thorac Cardiovasc Surg 2021 Dec;69(12):1532-1538. Epub 2021 Jun 5 doi: 10.1007/s11748-021-01657-7. PMID: 34089477
Manuel AM, Ladeiras-Lopes R, Ribeiro J, Ferreira ND, Faria R, Carvalho M, Ferreira W, Ferraz R, Gonçalves F, Batista A, Gonçalves C, Pires-Morais G, Rodrigues A, Sampaio F, Teixeira M, Braga P, Fontes-Carvalho R
Eur Heart J Cardiovasc Imaging 2021 Jun 22;22(7):765-776. doi: 10.1093/ehjci/jeaa355. PMID: 33400773
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

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