Cardiomyopathy characterized by abnormal accumulation of XXXX -type intermediate filaments in cardiac muscle fibers. A case report and review of the literature.

@entity82 @entity712 @entity1165 @entity2283 @entity854 @entity393 @entity9308 @entity616
A 42-year-old Japanese male, who had been suffering from @entity712 and @entity854 ( @entity616 , intraventricular conduction disturbance, @entity1165 ), died after a clinical course of 2 years and 1 month. Macroscopic investigation revealed dilation of the left ventricle and thickening of the right ventricular wall. The unique finding in this case was a circumferential @entity82 in the median circular layer and outer oblique layer of the left ventricular wall. Biopsy and autopsy materials revealed @entity393 in the central zone of cardiac muscle fibers, and replacement with @entity9308 blue-positive homogeneous material (17-35% of the area of one muscle fiber). Electron microscopy revealed abnormal accumulation of fine filamentous material (7.5-25 nm in diameter), which was immunohistochemically proved to be @entity2283 -type intermediate filament. Moreover, sarcoplasmic reticulum-like material was detected in the degenerated area. At autopsy, degeneration was detected all over the heart. The ventricular muscle fibers were more severely affected than the atrial muscle fibers. The conduction system was also affected, in some parts more severely than the surrounding ordinary muscle fibers. The pathogenesis of this disorder remains to be clarified.
