Mucopolysaccharidosis Type I Diagnosed by Aortic and Mitral Valve Replacement

通过主动脉瓣和二尖瓣置换术诊断I型粘多糖贮积症

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Abstract

A 32-year-old developmentally delayed man presenting with dyspnea was found to have severe aortic and mitral valve stenosis. After double valve replacement, unique histologic findings prompted a genetics evaluation, ultimately leading to the diagnosis of mucopolysaccharidosis type I, a rare lysosomal storage disorder with high rates of cardiac manifestations. (Level of Difficulty: Advanced.).

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