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Mucopolysaccharidosis Type I Diagnosed by Aortic and Mitral Valve Replacement.

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.).

SUBMITTER: Sherwood DJ

PROVIDER: S-EPMC8693276 | biostudies-literature |

REPOSITORIES: biostudies-literature

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