The Relationship Between Carpal Tunnel Syndrome and Cardiac Involvement in Patients with Mucopolysaccharidosis

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<0.001). The presence of cardiac involvement, combined involvement of the aortic and mitral valves, and the severity of heart valve involvement were found to be statistically significantly higher in the patient group with CTS than in the patient group without CTS (p=0.007, p=0.005, p=0.009, respectively). Conclusions: Our study found that CTS was more common in patients with cardiac involvement, especially heart valve involvement. We recommend that CTS screening be performed, especially in MPS patients with cardiac involvement.