Mucopolysaccharidoses (MPS) are a group of genetic disorders due to deficiency of lysosomal enzymes resulting in impaired glycosaminoglycan metabolism. All types of MPS can present with cardiovascular manifestation, although MPS-I, II, and VI seem to have more severe involvement than the other types. Enzyme replacement therapy (ERT) is available for MPS-I, II, and VI. Cardiovascular changes including hypertrophic cardiomyopathy, thickened valvular lesions, and coronary artery lesions often poorly respond to ERT and are well known as leading causes of death in patients with MPS-I. The mechanisms to cause these changes in MPS-I have not been well characterized. Immunohistopathological studies were conducted on the cardiac specimens from a patient with MPS-I who died due to sudden cardiac failure.

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