Abstract | BACKGROUND: A unique adult male patient who developed cardiomyopathy was first suspected to have cardiac Fabry disease based on the pathological findings in heart tissues obtained on biopsy, but the alpha-galactosidase activity in his leukocytes was normal and no mutation was detected in the coding region of the alpha-galactosidase gene. We identified accumulated materials in the myocardium of this patient. METHODS: Pathological and biochemical analyses were performed using the autopsied heart tissues as samples. RESULTS: CONCLUSIONS: We found that a large amount of phospholipids accumulated in the myocardium of a patient with idiopathic cardiomyopathy, and electron microscopic findings of lamellar and concentric inclusion bodies in cardiomyocytes. A cardiac phospholipid storage disorder should be considered as an important candidate disease on differential diagnosis of myocardiac disorders including cardiac Fabry disease.
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Authors | Ikuo Kawashima, Ichiro Takeuchi, Mai Ohsawa, Masaharu Kotani, Youichi Tajima, Takayuki Inomata, Tohru Izumi, Hitoshi Sakuraba |
Journal | Clinica chimica acta; international journal of clinical chemistry
(Clin Chim Acta)
Vol. 372
Issue 1-2
Pg. 154-7
(Oct 2006)
ISSN: 0009-8981 [Print] Netherlands |
PMID | 16753138
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Phospholipids
- alpha-Galactosidase
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Topics |
- Autopsy
- Cardiomyopathies
(enzymology, metabolism, pathology)
- Chromatography, Thin Layer
- Humans
- Male
- Middle Aged
- Phospholipids
(metabolism)
- alpha-Galactosidase
(metabolism)
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