Cellular pathophysiology of Friedreich's ataxia cardiomyopathy

Jarmon G. Lees, Marek Napierala, Alice Pébay, Mirella Dottori, Shiang Y. Lim; International Journal of Cardiology, 2021, doi:10.1016/j.ijcard.2021.11.033. 

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.