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Left-sided valvular heart disease and retinopathy in a 38-year-old woman with attenuated mucopolysaccharidosis: a case report.
- Source :
-
Therapeutic advances in rare disease [Ther Adv Rare Dis] 2023 Jan 12; Vol. 4, pp. 26330040221145945. Date of Electronic Publication: 2023 Jan 12 (Print Publication: 2023). - Publication Year :
- 2023
-
Abstract
- Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders caused by deficient levels and/or activity of glycosaminoglycan (GAG)-degradative enzymes. MPS are characterized by accumulation of the mucopolysaccharides heparan sulfate, dermatan sulfate, keratan sulfate, or chondroitin sulfate in tissues. We report the case of a 38-year-old woman with a history of joint restriction and retinitis pigmentosa who developed bivalvular heart failure requiring surgery. It was not until pathological examination of surgically excised valvular tissue that a diagnosis of MPS I was made. Her musculoskeletal and ophthalmologic symptoms, when placed in the context of MPS I, painted the diagnostic picture of a genetic syndrome that was overlooked until a diagnosis was made in late middle age.<br />Competing Interests: The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.<br /> (© The Author(s), 2023.)
Details
- Language :
- English
- ISSN :
- 2633-0040
- Volume :
- 4
- Database :
- MEDLINE
- Journal :
- Therapeutic advances in rare disease
- Publication Type :
- Report
- Accession number :
- 37181073
- Full Text :
- https://doi.org/10.1177/26330040221145945