[Two case studies of hypertrophic cardiomyopathy in Friedreich's ataxia]

Gac Med Mex. 2009 Jul-Aug;145(4):343-6.
[Article in Spanish]

Abstract

Background: Friedreich's ataxia is the most common hereditary ataxia and its clinical spectrum includes cardiac disease, mainly hypertrophic cardiomyopathy.

Methods: We present two cases with molecular diagnosis of Friedreich's ataxia and cardiac disease shown on electrocardiogram and echocardiogram.

Results: Neurological symptoms which lead to the diagnosis are described together with cardiac comorbidities.

Conclusions: The cases here described highlight the importance of early screening and identification of systemic complications, specifically cardiac disease, in patients with this neurological disease.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Cardiomyopathy, Hypertrophic / etiology*
  • Female
  • Friedreich Ataxia / complications*
  • Friedreich Ataxia / diagnosis
  • Humans
  • Young Adult