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Desmin-related restrictive cardiomyopathy

Christiano Pereira Silva1, Fernando Bacal, Luiz Alberto Benvenuti

  • 1Instituto do Coração, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil. chrispsilva@cardiol.br

Arquivos Brasileiros De Cardiologia
|March 5, 2008
PubMed

Insights

Restrictive cardiomyopathies can stem from desmin accumulation, a rare condition. This case highlights desmin storage disease presenting initially with heart block, progressing to muscle issues and heart failure.

Area of Science:

  • Cardiology
  • Neurology
  • Genetics

Background:

  • Restrictive cardiomyopathies encompass various etiologies, including storage diseases.
  • Desmin accumulation (desminopathies) is an uncommon cause of cardiac and muscle dysfunction.

Observation:

  • This report details a patient whose initial symptom was complete atrioventricular block.
  • The patient later exhibited skeletal muscle alterations and developed heart failure.

Findings:

  • Diagnostic investigation confirmed restrictive cardiomyopathy.
  • The underlying cause was identified as desmin accumulation.

Implications:

  • This case underscores the importance of considering desmin storage disease in patients with unexplained restrictive cardiomyopathy and conduction abnormalities.
  • Early diagnosis of desminopathies is crucial for managing cardiac and peripheral myopathies.

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