[Desmin-related cardiomyopathy]

Arkh Patol. 2011 Jul-Aug;73(4):56-9.
[Article in Russian]

Abstract

The observation of 26 years old patient with desminopathy declared itself by hypertrophied cardiomyopathy with its transformation into restrictive phenotype is presented. The features of pathologic course at the patient were a dominance and diversity of cardiac manifestations. Endomyocardiac biopsy allowed suspecting the desminopathy confirmed by genetic analysis. Morphological features of desmin-related cardiomyopathy were irregular desmin conglomerates mainly located under sarcolemma and an indirect histological signs of idiopathic cardiomyopathy as well nuclear polymorphism, perinuclear "nimbus", chaotic located myofibrils.

Publication types

  • Case Reports
  • English Abstract
  • Review

MeSH terms

  • Adult
  • Cardiomyopathies / genetics*
  • Cardiomyopathies / metabolism
  • Cardiomyopathies / pathology*
  • Desmin / genetics*
  • Desmin / metabolism
  • Humans
  • Male
  • Myositis, Inclusion Body / genetics*
  • Myositis, Inclusion Body / metabolism
  • Myositis, Inclusion Body / pathology*

Substances

  • Desmin

Supplementary concepts

  • Myopathy, desmin storage