Friedreich’s ataxia is an autosomal recessive neurodegenerative disease caused by a guanine-adenine-adenine triplet repeat expansion in the first intron of frataxin [
50]. The intronic expansion leads to a specific iron-sulfur protein deficiency, resulting in intra-mitochondrial iron accumulation. Besides the neurologic manifestation, cardiac involvement and endocrine involvement are also frequently observed [
27]. A concentric LVH with an end-diastolic wall thickness of less than 15 mm is the usual echocardiographic feature [
48]. Around 40% of patients with Friedreich’s ataxia show concentric remodeling, 35% concentric hypertrophy, and only 5% eccentric hypertrophy [
49]. Global LV systolic and diastolic function remain normal in most patients with Friedreich’s ataxia, and only end-stage patients with this disease develop reduced LVEF with global hypokinesia and slightly dilated LV chamber[
3]. Electrocardiographic abnormalities are often the earliest sign of Friedreich’s ataxia. At this early stage, echocardiography results are usually normal and the polar plot longitudinal strain mapping shows a similar pattern as that of healthy subjects. In patients with Friedreich’s ataxia with concentric LVH and normal LVEF, the polar plot longitudinal strain mapping pattern indicates a mildly reduced GLS [
50]. Myocardial fibrosis develops gradually, leading to LV wall thinning and LV dilatation during the disease progression, while LVEF remains preserved for a long time until the end-stage of the disease [
48]. Noteworthy is that the LV wall thinning appears to be diffuse in patients with Friedreich’s ataxia, which is different from the typical findings for Fabry cardiomyopathy. The polar plot longitudinal strain mapping shows significantly reduced GLS when LVEF is reduced. Additionally, Friedreich’s ataxia shares some echocardiographic features with cardiac amyloidosis in terms of morphology, including concentric LVH with a sparkling granular texture of myocardium. Different from cardiac amyloidosis, though, LV diastolic function of patients with Friedreich’s ataxia can be normal or only mildly impaired. Moreover, a longitudinal base-to-apex strain gradient, which is frequently evidenced in cardiac amyloidosis, is rarely detected in patients with Friedreich’s ataxia [
27]. Furthermore, the underlying mechanisms of myocardial dysfunction in patients with Friedreich’s ataxia might be associated with myocyte cellular hypertrophy, iron deposits, focal necrosis, and diffuse fibrosis [
51].