Journal
MEDICAL MOLECULAR MORPHOLOGY
Volume 54, Issue 3, Pages 289-295Publisher
SPRINGER JAPAN KK
DOI: 10.1007/s00795-021-00293-7
Keywords
Biopsy; Myocardial necrosis; Pathology
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Funding
- Japan Society for the Promotion of Science [17K09512]
- Grants-in-Aid for Scientific Research [17K09512] Funding Source: KAKEN
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Restrictive cardiomyopathy is a rare primary myocardial disease with unclear pathological features. A 65-year-old Japanese woman was diagnosed with MHY7 mutation-related RCM, with electron microscopy of a myocardial biopsy revealing specific features possibly associated with the pathogenesis of the disease.
Restrictive cardiomyopathy (RCM) is a rare primary myocardial disease, and its pathological features are yet to be determined. Restrictive cardiomyopathy with MHY7 mutation was diagnosed in a 65-year-old Japanese woman. Electron microscopy of a myocardial biopsy revealed electron-dense materials resulting from focal myocyte degeneration and necrosis as well as tubular structures and pseudo-inclusion bodies in some nuclei. These features may be associated with the pathogenesis of RCM.
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