Congestive heart failure and cardiac thrombus as first presentations of Friedreich ataxia

Pediatr Neurol. Jul-Aug 1992;8(4):313-4. doi: 10.1016/0887-8994(92)90374-8.


The majority of patients with Friedreich ataxia present with gait ataxia. Congestive heart failure usually is a terminal event. We report a 9-year-old boy who developed congestive heart failure and thrombus formation in the left ventricle at age 5 years and then progressive ataxia as well as other features of Friedreich ataxia; therefore, congestive heart failure and thrombus formation may rarely be the initial findings in Friedreich ataxia.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Diagnosis, Differential
  • Friedreich Ataxia / complications
  • Friedreich Ataxia / genetics*
  • Heart Diseases / etiology
  • Heart Diseases / genetics*
  • Heart Failure / etiology
  • Heart Failure / genetics*
  • Heart Ventricles
  • Humans
  • Male
  • Neurologic Examination
  • Thrombosis / etiology
  • Thrombosis / genetics*