title: Idiopathic mitral valve disease in a patient presenting with Axenfeld-Rieger syndrome.
abstract: A 33-year-old, previously healthy male presented with respiratory distress and underwent intubation. A physical examination revealed a holosystolic murmur and pupillary abnormalities. Echocardiography revealed a flail anterior mitral valve leaflet with ruptured chordae and severe mitral regurgitation. The patient underwent urgent mitral valve replacement and tolerated the procedure well. The mitral valve leaflet was myxomatous and calcified -- an unusual find in such a patient. An ophthalmology consultation was obtained and the patient diagnosed with Axenfeld-Rieger syndrome, a disorder of the anterior ocular chamber that has been associated with cardiac malformations. The present case report adds to the body of literature which suggests a correlation between Axenfeld-Rieger syndrome and valvular abnormalities. Hence, it is believed prudent that patients with Axenfeld-Rieger syndrome should undergo echocardiographic screenings for valvular abnormalities.
authors: Vanderbilt Heart & Vascular Institute, Nashville, Tennessee, USA.
authors: Jared
authors: J
authors: Antevil
authors: Ramanan
authors: R
authors: Umakanthan
authors: Marzia
authors: M
authors: Leacche
authors: Zachary
authors: Z
authors: Brewer
authors: Natalia
authors: N
authors: Solenkova
authors: John G
authors: JG
authors: Byrne
authors: James P
authors: JP
authors: Greelish
mesh_terms: D000328:Adult; D005124:Eye Abnormalities / Q000175:diagnosis*; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006801:Humans; D008297:Male; D008943:Mitral Valve / Q000002:abnormalities*; D008944:Mitral Valve Insufficiency / Q000175:diagnosis* / Q000601:surgery; D013577:Syndrome