Key result
Autopsy of a patient with restrictive cardiomyopathy and MYH7 mutation revealed focal myocyte amorphous degeneration positive for ubiquitin, myocardial disarrangement, and interstitial fibrosis.
Why the study?
Restrictive cardiomyopathy is a rare primary myocardial disease whose pathological features remain unclear.
Case Report (n=1)
Autopsy of a patient with restrictive cardiomyopathy and MYH7 mutation revealed specific pathological features including ubiquitin-positive focal myocyte amorphous degeneration and electron-dense structures.
Answers are grounded in this paper and cite their sources.
Hypothesis-generating in MYH7 restrictive cardiomyopathy; larger studies needed before diagnostic or clinical application.
Restrictive cardiomyopathy (RCM) is a rare type of primary myocardial disease, and its pathological features remain unclear. We report the case of a 78-year-old Japanese woman with RCM and MHY7 mutation who died of heart failure 13 years after the diagnosis. Upon autopsy, focal myocyte amorphous degeneration positive for ubiquitin was revealed, as well as myocardial disarrangement and interstitial fibrosis. Electron microscope demonstrated electron-dense structure in the cardiac myocytes. These may be one of the pathological features of RCM.
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Kawano et al. (2021) conducted a case report in Restrictive cardiomyopathy with MYH7 mutation (n=1). MYH7 mutation was evaluated on Pathological features upon autopsy. Autopsy of a patient with restrictive cardiomyopathy and MYH7 mutation revealed focal myocyte amorphous degeneration positive for ubiquitin, myocardial disarrangement, and interstitial fibrosis.
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