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Title: Alagille syndrome: an unusual presentation of an uncommon disease. Author: Funk M, Cohen M, Santana O. Journal: South Med J; 2010 Oct; 103(10):1049-51. PubMed ID: 20818316. 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.[Abstract] [Full Text] [Related] [New Search]