Alagille syndrome: an unusual presentation of an uncommon disease.
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.
Funk
Michael
M
Mount Sinai Medical Center, Miami Beach, FL, USA. docfunk@mac.com
Cohen
Michael
M
Santana
Orlando
O
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