Friedreich ataxia (FA) is best known for its neurological phenotype, but the most common cause of death is heart disease. This paper describes the FA heart based on studies from post-mortem tissue. The pathogenesis of FA cardiomyopathy includes failure to clear iron from myocytes, chronic inflammation, fiber necrosis, and scarring. On cross section, heart fibers are significantly enlarged and excessively lobulate. In the longitudinal dimension, the pathogenesis also involves modifications of intercalated discs (ICDs), the plasma membrane specializations that connect heart fibers end-to-end. The authors show that some of the unusual features of the FA heart likely precede active cardiac disease, and may or may not be able to be resolved by increasing frataxin later in disease.
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