Abstract
Background / Aims: Mucopolysaccharidoses (MPSs) are a group of progressive multisystemic diseases, and it is unknown whether there is a relationship between these system involvements. In this study, we aimed to investigate whether there is a relationship between cardiac involvement and carpal tunnel syndrome (CTS) in MPS patients. Methods: The study was conducted between May 12, 2023, and June 30, 2024, as a prospective study with a retrospective onset. Patients between the ages of 2 and 20 years who were diagnosed with MPS Types I, II, IV A, and VI enzymatically and genetically and who underwent electromyography for CTS screening and transthoracic echocardiography for cardiac involvement were included in the study. Results: Twenty-six MPS patients were included in the study. The mean age of the patients was 128±58 months. There was cardiac involvement in 21 (80.8%) of the patients. Heart valve involvement was present in 20 (76.9%) patients. Our study found that 14 (53.8%) of our MPS patients had CTS. CTS was present in all patients in the MPS type I, II, and VI groups but not in any MPS type IV A patients. As a result of the statistical analysis, the presence of MPS Type IV A was statistically significantly higher in the group without CTS than in the group with CTS (p
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