South Med J. 2010 Oct;103(10):1049-51.

Alagille syndrome: an unusual presentation of an uncommon disease.

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Mount Sinai Medical Center, Miami Beach, FL, USA. docfunk@mac.com

Abstract

Alagille syndrome is a rare genetic disorder that results in intrahepatic cholestasis. Cardiac involvement mainly involves stenosis of branches of the pulmonary arteries. Aortic valve involvement is less common. To our knowledge, this is the first case of Alagille syndrome associated with severe aortic stenosis due to a bicuspid aortic valve.

PMID:: 20818316; [PubMed - indexed for MEDLINE]

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