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. ().
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8693276 | PMC |
| http://dx.doi.org/10.1016/j.jaccas.2021.10.013 | DOI Listing |
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