Mucopolysaccharidosis Type I Diagnosed by Aortic and Mitral Valve Replacement
| Autor: | Sherwood, Dalton J., Adams, Michael C., Mazzella, Anthony J., Abid, Ahad, Prasada, Sudhir, Muenzer, Joseph, Johnson, Steven M., Yeung, Michael |
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| Rok vydání: | 2021 |
| Předmět: |
inherited metabolic disorders
Clinical Case TTE transthoracic echocardiogram cardiovascular system echocardiography LVOT left ventricular outflow tract Case Report genetics valve replacement GAG glycosaminoglycan CNS central nervous system MPS mucopolysaccharidosis Cardiology and Cardiovascular Medicine |
| Zdroj: | JACC Case Reports |
| ISSN: | 2666-0849 |
| DOI: | 10.1016/j.jaccas.2021.10.013 |
| Popis: | 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.) Graphical abstract |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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