Mucopolysaccharidosis Type I Diagnosed by Aortic and Mitral Valve Replacement

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 lysosoma...

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Detalles Bibliográficos
Autores principales: Sherwood, Dalton J., Adams, Michael C., Mazzella, Anthony J., Abid, Ahad, Prasada, Sudhir, Muenzer, Joseph, Johnson, Steven M., Yeung, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8693276/
https://www.ncbi.nlm.nih.gov/pubmed/34984346
http://dx.doi.org/10.1016/j.jaccas.2021.10.013
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author Sherwood, Dalton J.
Adams, Michael C.
Mazzella, Anthony J.
Abid, Ahad
Prasada, Sudhir
Muenzer, Joseph
Johnson, Steven M.
Yeung, Michael
author_facet Sherwood, Dalton J.
Adams, Michael C.
Mazzella, Anthony J.
Abid, Ahad
Prasada, Sudhir
Muenzer, Joseph
Johnson, Steven M.
Yeung, Michael
author_sort Sherwood, Dalton J.
collection PubMed
description 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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spelling pubmed-86932762022-01-03 Mucopolysaccharidosis Type I Diagnosed by Aortic and Mitral Valve Replacement Sherwood, Dalton J. Adams, Michael C. Mazzella, Anthony J. Abid, Ahad Prasada, Sudhir Muenzer, Joseph Johnson, Steven M. Yeung, Michael JACC Case Rep Case Report 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.) Elsevier 2021-12-15 /pmc/articles/PMC8693276/ /pubmed/34984346 http://dx.doi.org/10.1016/j.jaccas.2021.10.013 Text en © 2021 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Sherwood, Dalton J.
Adams, Michael C.
Mazzella, Anthony J.
Abid, Ahad
Prasada, Sudhir
Muenzer, Joseph
Johnson, Steven M.
Yeung, Michael
Mucopolysaccharidosis Type I Diagnosed by Aortic and Mitral Valve Replacement
title Mucopolysaccharidosis Type I Diagnosed by Aortic and Mitral Valve Replacement
title_full Mucopolysaccharidosis Type I Diagnosed by Aortic and Mitral Valve Replacement
title_fullStr Mucopolysaccharidosis Type I Diagnosed by Aortic and Mitral Valve Replacement
title_full_unstemmed Mucopolysaccharidosis Type I Diagnosed by Aortic and Mitral Valve Replacement
title_short Mucopolysaccharidosis Type I Diagnosed by Aortic and Mitral Valve Replacement
title_sort mucopolysaccharidosis type i diagnosed by aortic and mitral valve replacement
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8693276/
https://www.ncbi.nlm.nih.gov/pubmed/34984346
http://dx.doi.org/10.1016/j.jaccas.2021.10.013
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