Friedreich ataxia presenting as sudden cardiac death in childhood: clinical, genetic and pathological correlation, with implications for genetic testing and counselling

Neuromuscul Disord. 2010 May;20(5):340-2. doi: 10.1016/j.nmd.2010.02.019. Epub 2010 Mar 24.

Abstract

Friedreich ataxia (FRDA) is the most common cause of childhood onset ataxia. We report on a 4 year old boy who suffered sudden cardiac death and was found to have a dilated cardiomyopathy with left ventricular hypertrophy on post-mortem studies. Molecular genetic testing subsequently confirmed the diagnosis of Friedreich ataxia. To our knowledge, this is the first report of Friedreich ataxia presenting as sudden cardiac death in early childhood.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Counseling
  • Death, Sudden, Cardiac / etiology*
  • Death, Sudden, Cardiac / pathology*
  • Female
  • Friedreich Ataxia* / complications
  • Friedreich Ataxia* / genetics
  • Friedreich Ataxia* / pathology
  • Ganglia, Spinal / metabolism
  • Ganglia, Spinal / pathology
  • Humans
  • Iron-Binding Proteins / genetics
  • Male
  • Siblings
  • Trinucleotide Repeat Expansion / genetics

Substances

  • Iron-Binding Proteins
  • frataxin