title: Alagille syndrome: an unusual presentation of an uncommon disease.
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.
authors.affiliation: Mount Sinai Medical Center, Miami Beach, FL, USA. docfunk@mac.com
authors.forename: Michael
authors.initials: M
authors.lastname: Funk
authors.forename: Michael
authors.initials: M
authors.lastname: Cohen
authors.forename: Orlando
authors.initials: O
authors.lastname: Santana
mesh_terms: D000328:Adult; D016738:Alagille Syndrome / Q000150:complications / Q000175:diagnosis*; D001024:Aortic Valve Stenosis / Q000150:complications* / Q000175:diagnosis / Q000601:surgery; D004452:Echocardiography; D017809:Fatal Outcome; D006323:Heart Arrest / Q000209:etiology; D006801:Humans; D008297:Male