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desmin cardiomyopathy

Tuesday 28 August 2007

Synopsis

- diffuse myocyte hypertrophy
- nuclear pleomorphism without intramyocardial fibrosis
- myofibers distorted by intracytoplasmic, pale, waxy hyaline inclusions

- conduction fibers grossly swollen and preferentially involved

- trichrome stain

  • pale pink inclusions against a red background

- inclusions PAS negative and not congophilic

Immunochemistry

- desmin immunohistochemical staining variable

  • dense staining of inclusions in some areas
  • faint to no staining

Electron microscopy

- filamentous and fibrillar inclusions
- streaming disruption of Z-bands is prominent
- inclusions pushing the myofilaments aside and disrupting the cytoplasm with accumulation of mitochondria against the cell membrane
- inclusions containing conspicuous Z-band material
- +/- endoplasmic reticular structures

Etiology

- desmin gene mutations

Case records

- UPMC 479

See also

- myofibrillar myopathies