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Mucopolysaccharidosis Type I Diagnosed by Aortic and Mitral Valve Replacement

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source: JACC. Case reports

year: 2021

authors: Sherwood DJ,Adams MC,Mazzella AJ,Abid A,Prasada S,Muenzer J,Johnson SM,Yeung M


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. ().

organization: Department of Medicine, University of North Carolina Hospitals, Chapel Hill, North Carolina, USA.

DOI: 10.1016/j.jaccas.2021.10.013

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