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@article{174788,
        author = {Hershavardhini K and Dr. Veeresh Manvi and Dr. Shaila Pachapure},
        title = {A Rare Encounter: Cardiac Manifestations in a Patient with Maroteaux-Lamy Syndrome (MPS VI)},
        journal = {International Journal of Innovative Research in Technology},
        year = {2025},
        volume = {11},
        number = {11},
        pages = {707-710},
        issn = {2349-6002},
        url = {https://ijirt.org/article?manuscript=174788},
        abstract = {Background: Mucopolysaccharidosis type VI (MPS VI), or Maroteaux–Lamy syndrome, is a rare lysosomal storage disorder caused by ARSB gene mutations, leading to deficient arylsulfatase B enzyme activity and the accumulation of dermatan sulfate. This results in progressive multi-system involvement, with skeletal abnormalities, corneal clouding, and cardiovascular complications being prominent features.
Case Presentation: We report the case of a 2.8-year-old female, born to consanguineous parents, who presented with excessive sweating, frequent falls, poor appetite, delayed dentition, and skeletal deformities. She had a prior history of respiratory distress requiring hospitalization and diuretic therapy. On examination, she exhibited characteristic dysmorphic features, including coarse facies, frontal bossing, corneal clouding, widened wrists, and an umbilical hernia. Anthropometric assessment revealed severe growth failure (weight: 7.43 kg, Z-score: -3.97; height: 75.5 cm, Z-score: -4.34).
Cardiac evaluation detected a grade 3 systolic murmur, and echocardiography revealed mitral regurgitation, global left ventricular hypokinesia, and a significantly reduced ejection fraction of 25%. Radiographic findings showed dysostosis multiplex, including ovoid vertebral bodies, widened ribs, and bullet-shaped metacarpals. Whole exome sequencing confirmed a homozygous pathogenic ARSB mutation, consistent with MPS VI.
Conclusion: This case highlights the significance of early recognition of MPS VI, especially in patients with cardiac involvement. While enzyme replacement therapy remains the standard treatment, a multidisciplinary approach is crucial for optimizing outcomes and improving the patient’s quality of life.},
        keywords = {MPS VI, Cardiac complications, lysosomal storage disorder},
        month = {March},
        }