Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2022 Sep 23:9:977432.
doi: 10.3389/fcvm.2022.977432. eCollection 2022.

Case report: Congenital mitral and tricuspid valve insufficiency in a patient with Axenfeld-Rieger syndrome

Jingwei Feng  1 , Yingjiao Wang  1 , Shiyu Cheng  2 , Zishuo Liu  3 , Ling Lan  4 , Qi Miao  5 , Chaoji Zhang  5
Affiliations
Case Reports

Case report: Congenital mitral and tricuspid valve insufficiency in a patient with Axenfeld-Rieger syndrome

Jingwei Feng et al. Front Cardiovasc Med. .

Abstract

Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder that is primarily due to disruption of the development of neural crest cells. The onset of associated symptoms in both eyes accompanied by extraocular developmental defects is referred to as ARS. Cardiac defects associated with ARS have been reported, but the extent of the cardiac defects has yet to be defined. We report a case of a 17-year-old girl with ARS with typical facial malformations and severe mitral and tricuspid valve insufficiency. The patient was diagnosed with secondary glaucoma detected on ophthalmologic examination. Echocardiography showed severe mitral and tricuspid valve insufficiency. This case provides further evidence of the association of ARS with cardiac malformations and extends the reported range of cardiac malformations in patients with ARS.

Keywords: Axenfeld-Rieger syndrome (ARS); cardiac malformations; glaucoma; mitral valve insufficiency; tricuspid valve insufficiency.

PubMed Disclaimer

Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Slit-lamp photographs of the right and left eyes. Both eyes show anterior synechia (long arrows). The left eye shows pupil deformation and deviation (short arrow), iris atrophy causing the formation of a localized pore (arrowhead).
Figure 2
Figure 2
Fundus photographs showing a normal optic disc in the right eye and a pale optic disc with a clear border in the left eye (arrow). The cup-to-disc ratio is 0.3 for the right eye and 0.9 for the left eye.
Figure 3
Figure 3
(A) The patient has a wide flat nasal bridge, increased distance between the medial canthi, and flat cheeks. (B) The patient has fairly normal dentition with a sharp crown and poorly developed permanent teeth.
Figure 4
Figure 4
Echocardiography shows (A) severe mitral regurgitation and (B) severe tricuspid regurgitation. (C) Intraoperative photographs show that the aorta is 1.5 cm in diameter, which is significantly smaller than normal. RA, right atrium; RV, right ventricle; LA, left atrium; LV, left ventricle; AML, anterior mitral leaflet; MR, mitral regurgitation; TR, tricuspid regurgitation; AO, aorta; PA, pulmonary artery.
See this image and copyright information in PMC

Similar articles

See all similar articles

References

    1. Mears AJ, Jordan T, Mirzayans F, Dubois S, Kume T, Parlee M, et al. . Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. Am J Hum Genet. (1998) 63:1316–28. 10.1086/302109 - DOI - PMC - PubMed
    1. Shields MB. Axenfeld-Rieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndrome. Trans Am Ophthalmol Soc. (1983) 81:736–84. - PMC - PubMed
    1. Kulak SC, Kozlowski K, Semina EV, Pearce WG, Walter MA. Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. Hum Mol Genet. (1998) 7:1113–7. 10.1093/hmg/7.7.1113 - DOI - PubMed
    1. Shields MB, Buckley E, Klintworth GK, Thresher R. Axenfeld-Rieger syndrome. A spectrum of developmental disorders. Surv Ophthalmol. (1985) 29:387–409. 10.1016/0039-6257(85)90205-X - DOI - PubMed
    1. Alward WLM. Axenfeld-Rieger syndrome in the age of molecular genetics. Am J Ophthalmol. (2000) 130:107–15. 10.1016/S0002-9394(00)00525-0 - DOI - PubMed

Publication types

LinkOut - more resources