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  • Title: [Stickler syndrome with rapidly progressive mitral valve regurgitation: report of a case].
    Author: Akishima S, Sakurai J, Jikuya T.
    Journal: Kyobu Geka; 2004 Jul; 57(7):569-72. PubMed ID: 15285386.
    Abstract:
    A 36-year-old man with Stickler syndrome who underwent mitral valve replacement for rapidly progressive mitral regurgitation due to prolapse of an anterior leaflet. Stickler syndrome is a relatively rare condition caused by a defective collagen gene and characterized by high myopia, sensorineural-hearing deficit and flattened facial features. The prevalence of mitral valve prolapse in Stickler syndrome is reported to be much higher than in the general population because of its connective tissue dysplasia. Mitral regurgitation rapidly and refractorily progresses. Prompt surgical treatment should be recommended to mitral regurgitation in Stickler syndrome, and mitral valve replacement with a prosthetic valve is a better selection than mitral valve plasty for tissue fragility.
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