Dan Liu, Kai Hu, Peter Nordbeck, Georg Ertl, Stefan Störk and Frank Weidemann. European Journal of Medical Research 201621:21 DOI: 10.1186/s40001-016-0216-y
Friedreich’s ataxia: Besides the neurologic manifestation, cardiac involvement and endocrine involvement are also frequent. A concentric LVH with an end-diastolic wall thickness of less than 15 mm is the usual echocardiographic feature. Around 40 % of FA patients show concentric remodeling, 35 % show concentric hypertrophy and only 5 % display an eccentric hypertrophy. Global systolic function and diastolic function remain normal in most FA patients, and only end-stage FA patients develop reduced EF with global hypokinesia and slightly dilated LV chamber.
Electrocardiographic abnormalities (ST-T changes) are often the earliest sign of FA cardiomyopathy. At this early stage, echocardiography results are usually normal and the longitudinal strain bull’s eye plot is similar pattern as healthy subjects (Fig. 7a). In FA patients with concentric LVH and normal EF, the bull’s eye plot pattern presents with a mildly reduced average global strain (Fig. 7b). Myocardial fibrosis develops gradually, leading to LV wall thinning and LV dilatation during the disease progression, while EF remains preserved for a long time until the end-stage of the disease. Of note, the LV wall thinning appears to be diffuse in FA cardiomyopathy, which is different from the typical findings in Fabry cardiomyopathy. The bull’s eye plot shows significantly reduced average global longitudinal strain when LVEF is reduced (Fig. 7c).
CMRI with LE imaging provides evidence of fibrosis in the advanced stage of this disease, suggesting that fibrosis might be associated with subsequent myocardial dysfunction.
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