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Friedreich's Ataxia: a review from a cardiology perspective

T Bourke1, D Keane

  • 1Cardiac Arrhythmia Service, St Vincent's University Hospital, Elm Park, Dublin, Ireland. tarabourke@hotmail.com

Irish Journal of Medical Science
|August 9, 2011
PubMed

Insights

Friedreich's Ataxia (FA) frequently causes hypertrophic cardiomyopathy. Early screening and aggressive treatment for cardiac issues in FA patients can improve quality of life and survival.

Area of Science:

  • Cardiology
  • Neurology
  • Genetics

Background:

  • Cardiomyopathy is not common in the general population but is a known complication in certain neuromuscular disorders.
  • Friedreich's Ataxia (FA) is a neuromuscular disorder associated with cardiomyopathy.
  • Cardiac involvement in neuromuscular disorders significantly increases morbidity and mortality.

Purpose of the Study:

  • To review the literature on cardiac involvement in Friedreich's Ataxia.
  • To highlight the importance of cardiac screening in FA patients.

Main Methods:

  • Extensive literature search of Medline and Pubmed.
  • Inclusion of all published reports on cardiac involvement in FA.
  • Identification of secondary articles from reference listings.

Main Results:

  • Hypertrophic cardiomyopathy is a key feature of FA.
  • Cardiac involvement in FA requires careful monitoring and management.

Conclusions:

  • All patients with Friedreich's Ataxia should be screened for cardiomyopathy.
  • Cardiac examination, ECG, and ECHO are recommended at diagnosis and upon symptom development.
  • Treatment strategies depend on symptoms, left ventricular outflow gradient, and sudden death risk.
  • Early, aggressive medical therapy may enhance quality of life and survival in FA patients.
Abstract

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