Table 1.
Demographic and clinical data of FDRA patients and healthy controls.
All results are shown either as mean ± SD or percentages.
Fig 1.
A-B: CMR images from a 37 year-old FRDA patient with LV hypertrophy and preserved LVEF (A: Diastolic cine SSFP images in long axis views) and LGE with epicardial pattern in the lateral wall of the LV (B, arrows).
LV: left ventricle and Ao: aorta.
Table 2.
Cardiac magnetic resonance (CMR) findings in patients with Friedreich’s ataxia and healthy controls.
Fig 2.
A-B: The LV mass-to-EDV (end-diastolic-volume) ratio in FRDA patients was significantly higher than in controls, indicative of a hypertrophic phenotype.
In FRDA, both the extracellular volume fraction and the intracellular lifetime of water were positively associated with the LV mass-to-EDV ratio, suggesting that a build-up of interstitial fibrosis and cardiomyocyte hypertrophy contribute to the observed hypertrophic phenotype. The color of data points identifies the Weidemann’s cardiomyopathy classification (gray = absent, orange = mild and blue = intermediate).
Fig 3.
a) ECV increased significantly across Weidemann categories (P = 0.027 for linear trend; P = 0.053 for Kruskal-Wallis test) and ECV was significantly higher with the severe form of CM, compared to the group with absent signs. b) the intracellular water lifetime trended higher across Weidemann categories (P = 0.07 for linear trend); c) the degree of LV hypertrophic remodeling, assessed by the LV mass-to-EDV (end-diastolic-volume) ratio, increased across Weidemann categories, similar to the tissue markers ECV and intracellular lifetime in (a) and (b), suggesting that the changes at the tissue level are linked to the hypertrophic phenotype, based also on the results shown in Fig 2. The color of data points identifies the Weidemann’s cardiomyopathy classification (green = absent, red = mild and purple = intermediate).