Mucopolysaccharidosis Type I Diagnosed by Aortic and Mitral Valve Replacement

Dalton J Sherwood; Michael C Adams; Anthony J Mazzella; Ahad Abid; Sudhir Prasada; Joseph Muenzer; Steven M Johnson; Michael Yeung

doi:10.1016/j.jaccas.2021.10.013

Mucopolysaccharidosis Type I Diagnosed by Aortic and Mitral Valve Replacement

JACC Case Rep. 2021 Dec 15;3(18):1891-1894. doi: 10.1016/j.jaccas.2021.10.013.

Authors

Dalton J Sherwood¹, Michael C Adams², Anthony J Mazzella³, Ahad Abid¹, Sudhir Prasada⁴, Joseph Muenzer², Steven M Johnson⁵, Michael Yeung³

Affiliations

¹ Department of Medicine, University of North Carolina Hospitals, Chapel Hill, North Carolina, USA.
² Division of Genetics and Metabolism, University of North Carolina Hospitals, Chapel Hill, North Carolina, USA.
³ Division of Cardiology, University of North Carolina Hospitals, Chapel Hill, North Carolina, USA.
⁴ Nash Heart Center, Nash UNC Health Center, Rocky Mount, North Carolina, USA.
⁵ Department of Pathology and Laboratory Medicine, University of North Carolina Hospitals, Chapel Hill, North Carolina, USA.

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.).

Keywords: CNS, central nervous system; GAG, glycosaminoglycan; LVOT, left ventricular outflow tract; MPS, mucopolysaccharidosis; TTE, transthoracic echocardiogram; echocardiography; genetics; inherited metabolic disorders; valve replacement.

Publication types

Case Reports