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Idiopathic mitral valve disease in a patient presenting with Axenfeld-Rieger syndrome.
J Heart Valve Dis. 2009 May; 18(3):349-51.JH

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+Show Affiliations

Vanderbilt Heart & Vascular Institute, Nashville, Tennessee, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

19557997

Citation

Antevil, Jared, et al. "Idiopathic Mitral Valve Disease in a Patient Presenting With Axenfeld-Rieger Syndrome." The Journal of Heart Valve Disease, vol. 18, no. 3, 2009, pp. 349-51.
Antevil J, Umakanthan R, Leacche M, et al. Idiopathic mitral valve disease in a patient presenting with Axenfeld-Rieger syndrome. J Heart Valve Dis. 2009;18(3):349-51.
Antevil, J., Umakanthan, R., Leacche, M., Brewer, Z., Solenkova, N., Byrne, J. G., & Greelish, J. P. (2009). Idiopathic mitral valve disease in a patient presenting with Axenfeld-Rieger syndrome. The Journal of Heart Valve Disease, 18(3), 349-51.
Antevil J, et al. Idiopathic Mitral Valve Disease in a Patient Presenting With Axenfeld-Rieger Syndrome. J Heart Valve Dis. 2009;18(3):349-51. PubMed PMID: 19557997.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Idiopathic mitral valve disease in a patient presenting with Axenfeld-Rieger syndrome. AU - Antevil,Jared, AU - Umakanthan,Ramanan, AU - Leacche,Marzia, AU - Brewer,Zachary, AU - Solenkova,Natalia, AU - Byrne,John G, AU - Greelish,James P, PY - 2009/6/30/entrez PY - 2009/6/30/pubmed PY - 2009/8/22/medline SP - 349 EP - 51 JF - The Journal of heart valve disease JO - J Heart Valve Dis VL - 18 IS - 3 N2 - 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. SN - 0966-8519 UR - https://www.unboundmedicine.com/medline/citation/19557997/Idiopathic_mitral_valve_disease_in_a_patient_presenting_with_Axenfeld_Rieger_syndrome_ L2 - http://www.diseaseinfosearch.org/result/9542 DB - PRIME DP - Unbound Medicine ER -