A Case of Axenfeld-Rieger Syndrome with Severe Mitral Regurgitation.
- Author:
Jung Hyun LEE
1
;
Soo Ho CHAE
;
June HUH
;
I Seok KANG
;
Heung Jae LEE
;
Ji Hyuk YANG
;
Tae Gook JUN
Author Information
1. Department of Pediatrics, Sungkyunkwan University School of Medicine, Seoul, Korea. herzhuh@smc.samsung.co.kr
- Publication Type:Case Report
- Keywords:
Axenfeld-Rieger syndrome;
Glaucoma;
Mitral regurgitation
- MeSH:
Glaucoma;
Hearing Loss;
Heart Defects, Congenital;
Iris;
Mitral Valve;
Mitral Valve Insufficiency*;
Mitral Valve Prolapse
- From:Journal of the Korean Pediatric Cardiology Society
2006;10(2):216-219
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Axenfeld-Rieger syndrome is a rare autosomal dominant inherited developmental disorder characterized by ocular and systemic abnormalities. In ocular anomaly, it includes a prominent and anteriorly displaced Schwalbe line and an iridocorneal synechiae, iris hypoplasia, corectopia and secondary glaucoma. Extraocular developmental abnormalities of the syndrome are hearing loss, congenital heart disease, dental anomalies, developmental delay, and a characteristic facial appearance. We herein reported a familial case of Axenfeld-Rieger syndrome that had a mitral valve prolapse with severe mitral regurgitation finally requiring mitral valve replacement.
