Rare Diseases Inform Myocardial Phenotypes for Precision Medicine

Macrae, Calum A., Journal of Cardiac Failure , Volume 24 , Issue 10 , 680 - 681

Friedreich's ataxia (FA) is an autosomal recessive “triplet repeat” disorder characterized by cerebellar degeneration, long tract neuropathy, and a generalized myopathy.1 Although neurologic symptoms typically antedate any clinical cardiac involvement, heart failure remains the dominant cause of death in FA. The genetic basis of the disorder is a dramatic expansion of a GAA repeat sequence in the first intron of the FRDA gene, which encodes an iron-binding mitochondrial protein whose function remains incompletely understood.