A Case of Axenfeld-Rieger Syndrome with Severe Mitral Regurgitation
Journal of the Korean Pediatric Cardiology Society
;
: 216-219, 2006.
Article
in Korean
| WPRIM
| ID: wpr-181724
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Glaucoma
/
Iris
/
Mitral Valve Prolapse
/
Hearing Loss
/
Heart Defects, Congenital
/
Mitral Valve
/
Mitral Valve Insufficiency
Language:
Korean
Journal:
Journal of the Korean Pediatric Cardiology Society
Year:
2006
Type:
Article
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