Abstract
Background: Anderson-Fabry disease (AFD) can induce both central nervous system white matter lesions (WMLs) and cardiac abnormalities including left atrial (LA) dysfunction. We sought to evaluate the possible interrelations of LA structure and function impairment with the presence of WMLs in AFD patients. Methods 22 AFD patients and 22 controls, matched for age and sex, underwent an echo-Doppler exam including quantification of peak atrial longitudinal strain (PALS). AFD patients underwent also a 3-T brain magnetic resonance imaging with a visual quantification of WMLs by Fazekas’ score (FS) on 3D FLAIR images. Results AFD patients had significantly higher left ventricular (LV) mass index (LVMi) and relative wall thickness, and lower PALS compared to controls. Among AFD patients, 9 showed a FS = 0, and 13 a FS > 1. AFD patients with FS ≥ 1 showed lower PALS (29.4 ± 6.7 vs. 37.2 ± 3.9%, p = 0.003) than those with FS = 0, without difference in LA volume index and LVMi. In AFD patients, FS was inversely related to PALS (r = −0.49, p < 0.0001), even after adjusting for LVMi (r = −0.43, p < 0.05). Conclusions In the absence of significant alterations in LA size, AFD patients had lower PALS compared to controls. The inverse association between PALS and presence of WMLs indicates a possible parallel early involvement of heart and brain.
Highlights
Anderson-Fabry disease (AFD) is a rare X-linked lysosomal storage disorder leading to severe multiorgan dysfunction and inducing premature death
The two groups were comparable for heart rate and Blood pressure (BP), whereas body mass index was marginally higher in AFD patients (p < 0.05)
Global Longitudinal strain (GLS) was reduced in AFD patients (p < 0.01)
Summary
Anderson-Fabry disease (AFD) is a rare X-linked lysosomal storage disorder leading to severe multiorgan dysfunction and inducing premature death. Among different methods, assessing the extent of WMLs, Fazekas’ Score (FS), first proposed in 1987 [9], is one of the most used visual semi-quantitative scale to assess WML load by magnetic resonance imaging (MRI) This scale distinguishes deep and periventricular white matter, assigning to each a grading depending on the size and confluence of the WMLs [10,11]; in particular, the score is the sum of two 4-point scales (ranging from 0 to 3 each) assessing periventricular and deep white matter hyperintensities, with the total rate ranging from 0 to 6 (with higher values associated to higher lesion burden). Anderson-Fabry disease (AFD) can induce both central nervous system white matter lesions (WMLs) and cardiac abnormalities including left atrial (LA) dysfunction. The inverse association between PALS and presence of WMLs indicates a possible parallel early involvement of heart and brain
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