What question did this study set out to answer?

This case report aims to illustrate the cardiovascular complications of Mucopolysaccharidosis type I, particularly valvular disease and atrial amyloidosis.

November 1, 2025American Journal of Clinical PathologyOpen Access

177 Mucopolysaccharidosis I with Progressive Valvular Disease and Atrial Amyloidosis: A Case Report

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This case report aims to illustrate the cardiovascular complications of Mucopolysaccharidosis type I, particularly valvular disease and atrial amyloidosis.
Case report of a 38-year-old woman with attenuated MPS I presenting with heart failure.
Imaging identified cardiac valvular issues and heart function metrics like HFpEF.
Histopathological examination of cardiac tissues was conducted.
Mitral stenosis and regurgitation, along with aortic stenosis, were noted via imaging.
Histopathology revealed glycosaminoglycan accumulation in mitral valves.
Atrial amyloidosis was observed, likely exacerbated by chronic cardiac stress.

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Implication

Case report details worsening heart failure in a patient with Mucopolysaccharidosis I, highlighting enzyme replacement therapy limitations and valvular disease pathology.

Cite This Study

Juliana et al. (2025) studied this question.

synapsesocial.com/papers/6925436cc0ce034ddc3586cd https://doi.org/10.1093/ajcp/aqaf121.046

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Implication

Case report details worsening heart failure in a patient with Mucopolysaccharidosis I, highlighting enzyme replacement therapy limitations and valvular disease pathology.

177 Mucopolysaccharidosis I with Progressive Valvular Disease and Atrial Amyloidosis: A Case Report

Key Points

Discussion

Implication

Cite This Study

177 Mucopolysaccharidosis I with Progressive Valvular Disease and Atrial Amyloidosis: A Case Report

Key Points

Discussion

Implication

Cite This Study

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