FRIEDREICH'S ATAXIA AND ITS CARDIOVASCULAR MANIFESTATIONS

Friedreic’s Ataxia is a disease characterized by modification of the FRDA gene on chromosome 9q13. Affection this protein induces altered expression frataxin. When altered, molecular changes and cell death arise due to iron accumulation in mitochondria elevation reactive oxygen species. The damage occurs mostly neurons, causing neuronal impairment; however, alterations also occur heart, cardiac fibrosis. Symptomatology presents adolescence, with peripheral sensory neuropathies, vestibular changes, hyporeflexia, myoclonias dysarthria. Systemic manifestations include cardiomyopathies, diabetes mellitus foot deformity. Specifically myocardium becomes hypertrophic thickening ventricular walls, which subsequently progresses heart failure death. aim bibliographic review inform scientific community presence systemic manifestations, especially cardiovascular, Friedreich’s Ataxia; since not only neurological alterations, but affections different apparatuses systems human body, such as cellular alteration that causes. KEY WORDS: Cardiomyopathy, Friedreichs ataxia, failure, frataxin, mitochondria,