Bicuspid aortic valve with right-noncoronary cusp fusion

MedGen UID:: 1385812
•Concept ID:: C4476980
•: Congenital Abnormality

HPO:	HP:0031120

Definition

A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVBicuspid aortic valve with right-noncoronary cusp fusion

Abnormal heart morphology
- Abnormal heart valve morphology
  - Abnormal aortic valve morphology
    - Abnormal aortic valve cusp morphology
      - Bicuspid aortic valve
        Single raphe bicuspid aortic valve
        Bicuspid aortic valve with right-noncoronary cusp fusion

Recent clinical studies

Etiology

Unlocking insights in bicuspid aortic valve management in adult patients: the vital role of cardiac imaging.

Di Michele S, Parato VM, Di Giannuario G, Kholaif N, Al Admawi M, Aljheish S, Arbili L, Alshammari A, Parato AG, Al Sergani H
Monaldi Arch Chest Dis 2023 Sep 15;94(1) doi: 10.4081/monaldi.2023.2761. PMID: 37721026

Serial echocardiography for valve dysfunction and aortic dilation in bicuspid aortic valves.

Parker MW, Muchnik RD, Ogunsua A, Kundu A, Lakshmanan S, Shah N, Dickey JB, Gentile BA, Pape LA
Echocardiography 2021 Mar;38(3):394-401. Epub 2021 Feb 14 doi: 10.1111/echo.15000. PMID: 33586263

Bicuspid aortic valve morphology and its impact on aortic diameters-A systematic review with meta-analysis and meta-regression.

Miśkowiec D, Lipiec P, Szymczyk E, Wejner-Mik P, Michalski B, Kupczyńska K, Wierzbowska-Drabik K, Kasprzak JD
Echocardiography 2018 May;35(5):667-677. Epub 2018 Feb 4 doi: 10.1111/echo.13818. PMID: 29399873

Characteristic Morphologies of the Bicuspid Aortic Valve in Patients with Genetic Syndromes.

Niaz T, Poterucha JT, Olson TM, Johnson JN, Craviari C, Nienaber T, Palfreeman J, Cetta F, Hagler DJ
J Am Soc Echocardiogr 2018 Feb;31(2):194-200. Epub 2017 Nov 28 doi: 10.1016/j.echo.2017.10.008. PMID: 29191731

Bicuspid aortic valve morphology and its association with aortic diameter: an echocardiographic study.

Miśkowiec DŁ, Lipiec P, Kasprzak JD
Kardiol Pol 2016;74(2):151-8. Epub 2015 Jul 23 doi: 10.5603/KP.a2015.0134. PMID: 26202528

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Diagnosis

The Impact of Bicuspid Aortic Valve Leaflet Fusion Morphology on the Ascending Aorta and on Outcomes of Aortic Valve Replacement.

Bibevski S, Ruzmetov M, Plate JF, Scholl FG
Tex Heart Inst J 2023 Mar 1;50(2) doi: 10.14503/THIJ-21-7831. PMID: 36972539 Free PMC Article

Sex Differences in Children and Young Adults With Bicuspid Aortic Valve Disease in First Two Decades of Life.

Niaz T, Johnson JN, Cetta F, Poterucha JT, Hagler DJ
Mayo Clin Proc 2021 Jul;96(7):1874-1887. doi: 10.1016/j.mayocp.2020.12.033. PMID: 34218860

The impact of the aortic cusps fusion pattern and valve disease severity on the aortic wall mechanics in patients with bicuspid aortic valve.

Kalinowski ME, Szulik M, Pawlak S, Rybus-Kalinowska B, Zembala M, Kalarus Z, Kukulski T
Int J Cardiovasc Imaging 2020 Aug;36(8):1429-1436. Epub 2020 Apr 17 doi: 10.1007/s10554-020-01838-0. PMID: 32303878 Free PMC Article

Bicuspid aortic valve morphology and its impact on aortic diameters-A systematic review with meta-analysis and meta-regression.

Characteristic Morphologies of the Bicuspid Aortic Valve in Patients with Genetic Syndromes.

See all (9)

Therapy

Machine-learning phenotypic classification of bicuspid aortopathy.

Wojnarski CM, Roselli EE, Idrees JJ, Zhu Y, Carnes TA, Lowry AM, Collier PH, Griffin B, Ehrlinger J, Blackstone EH, Svensson LG, Lytle BW
J Thorac Cardiovasc Surg 2018 Feb;155(2):461-469.e4. Epub 2017 Sep 14 doi: 10.1016/j.jtcvs.2017.08.123. PMID: 29042101

Bicuspid aortic valve morphology and its association with aortic diameter: an echocardiographic study.

Miśkowiec DŁ, Lipiec P, Kasprzak JD
Kardiol Pol 2016;74(2):151-8. Epub 2015 Jul 23 doi: 10.5603/KP.a2015.0134. PMID: 26202528

A Regulated Trial of Bicuspid Aortic Valve Repair Supported by Geometric Ring Annuloplasty.

Mazzitelli D, Pfeiffer S, Rankin JS, Fischlein T, Choi YH, Wahlers T, Nöbauer C, Schreiber C, Lange R
Ann Thorac Surg 2015 Jun;99(6):2010-6. Epub 2015 Apr 10 doi: 10.1016/j.athoracsur.2015.01.050. PMID: 25865762

See all (3)