Cellular pathophysiology of Friedreich's ataxia cardiomyopathy

Jarmon G. Lees, Marek Napierala, Alice Pébay, Mirella Dottori, Shiang Y. Lim

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Friedreich's ataxia (FRDA) is a hereditary neuromuscular disorder. Cardiomyopathy is the leading cause of premature death in FRDA. FRDA cardiomyopathy is a complex and progressive disease with no cure or treatment to slow its progression. At the cellular level, cardiomyocyte hypertrophy, apoptosis and fibrosis contribute to the cardiac pathology. However, the heart is composed of multiple cell types and several clinical studies have reported the involvement of cardiac non-myocytes such as vascular cells, autonomic neurons, and inflammatory cells in the pathogenesis of FRDA cardiomyopathy. In fact, several of the cardiac pathologies associated with FRDA including cardiomyocyte necrosis, fibrosis, and arrhythmia, could be contributed to by a diseased vasculature and autonomic dysfunction. Here, we review available evidence regarding the current understanding of cellular mechanisms for, and the involvement of, cardiac non-myocytes in the pathogenesis of FRDA cardiomyopathy.

Original languageEnglish (US)
Pages (from-to)71-78
Number of pages8
JournalInternational Journal of Cardiology
StatePublished - Jan 1 2022
Externally publishedYes


  • Autonomic nervous system
  • Cardiomyocytes
  • Cardiomyopathy
  • Friedreich's ataxia
  • Inflammation
  • Vascular system

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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