Residual glycosaminoglycan accumulation in mitral and aortic valves of a patient with attenuated MPS I (Scheie syndrome) after 6years of enzyme replacement therapy: Implications for early diagnosis and therapy
| Autor: | Kazuhiro Hashimoto, Yohei Sato, Michio Yoshitake, Masako Fujiwara, Yuji Oto, Hiroshi Kobayashi, Hiroyuki Ida |
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| Rok vydání: | 2015 |
| Předmět: |
medicine.medical_specialty
congenital hereditary and neonatal diseases and abnormalities Mucopolysaccharidosis Case Report Left ventricular hypertrophy Coronary artery disease Cardiac valve disease Endocrinology Internal medicine Coronary artery bypass graft Genetics medicine Hurler syndrome skin and connective tissue diseases Molecular Biology lcsh:QH301-705.5 Double valve replacement surgery lcsh:R5-920 business.industry nutritional and metabolic diseases Enzyme replacement therapy medicine.disease Stenosis medicine.anatomical_structure lcsh:Biology (General) Cardiology cardiovascular system business Scheie syndrome lcsh:Medicine (General) Artery |
| Zdroj: | Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 94-97 (2015) Molecular Genetics and Metabolism Reports |
| ISSN: | 2214-4269 |
| DOI: | 10.1016/j.ymgmr.2015.10.014 |
| Popis: | Mucopolysaccharidosis (MPS) is an inherited metabolic disease caused by deficiency of the enzymes needed for glycosaminoglycan (GAG) degradation. MPS type I is caused by the deficiency of the lysosomal enzyme alpha-l-iduronidase and is classified into Hurler syndrome, Scheie syndrome, and Hurler-Scheie syndrome based on disease severity and onset. Cardiac complications such as left ventricular hypertrophy, cardiac valve disease, and coronary artery disease are often observed in MPS type I. Enzyme replacement therapy (ERT) has been available for MPS type I, but the efficacy of this treatment for cardiac valve disease is unknown. We report on a 56-year-old female patient with attenuated MPS I (Scheie syndrome) who developed aortic and mitral stenosis and coronary artery narrowing. The cardiac valve disease progressed despite ERT and she finally underwent double valve replacement and coronary artery bypass grafting. The pathology of the cardiac valves revealed GAG accumulation and lysosomal enlargement in both the mitral and aortic valves. Zebra body formation was also confirmed using electron microscopy. Our results suggest that ERT had limited efficacy in previously established cardiac valve disease. Early diagnosis and initiation of ERT is crucial to avoid further cardiac complications in MPS type I. |
| Databáze: | OpenAIRE |
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