Evaluation of Echocardiographic Findings of Mucopolysaccharidosis Cases

Abstract

Objective: Mucopolysaccharidosis (MPS) is a lysosomal storage disease in which the degradation of glycosaminoglycans is impaired. Cardiac involvement may occur in different ways in all types of the disease. In this study, we aimed to evaluate the echocardiographic reports of our patients with MPS retrospectively. Methods: Echocardiography reports of 37 patients with MPS were reviewed retrospectively. Results: Cardiac involvement was present in 70.2% our patients and the most commonly involved structure was mitral valve (59.5%). The most common pathology in mitral valve was mitral valve regurgitation (51.4%). Conclusion: Cardiac involvement and complications are frequently seen in MPS. Heart failure, coronary artery involvement and arrhythmias are the main causes of death. Early diagnosis of MPS and early initiation of enzyme replacement therapy may improve cardiac involvement. Progressive valve involvement may require surgical intervention over time. For all these reasons, cardiac evaluation in MPS patients should be performed at least once a year with accompanying electrocardiogram and echocardiography.