J Korean Pediatr Cardiol Soc.
2006 Jun;10(2):216-219.
A Case of Axenfeld-Rieger Syndrome with Severe Mitral Regurgitation
- Affiliations
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- 1Department of Pediatrics, Sungkyunkwan University School of Medicine, Seoul, Korea. herzhuh@smc.samsung.co.kr
- 2Department of Thoracic and Cardiovascular Surgery, Sungkyunkwan University School of Medicine, Seoul, Korea.
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.
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