Abstract
Purpose: Detection of cardiac involvement in Fabry disease (FD) is of high importance for treatment management. Native T1 mapping especially showed great potential for detection of early cardiac manifestations. Echocardiographic studies showed strain abnormalities in FD patients, but data on MRI feature tracking strain analysis (FT-SA) is limited. Therefore, the aim of our study was to evaluate the potential of FT-SA compared to native T1 and the FD specific biomarker Globotriaosylsphingosine (LysoGb3). Methods: 28 consecutive FD patients (18 female; 47.8 years ± 17.4 standard deviation (SD)) and 28 control subjects (18 female; 46.6 years ± 18.2 SD) underwent cardiac MRI at 1.5 Tesla. Global native T1 times and left ventricular FT-SA were evaluated. Results were correlated to serum Lyso-Gb3-levels. Results: Native T1 times, global longitudinal (GLS) and global radial strain (GRS) were significantly reduced in FD patients (p < 0.0064, p = 0.0009 and p = 0.0184, respectively). Moreover, native T1 times and GLS were significantly lower in Lyso-Gb3 positive FD patients (p < 0.005 and p = 0.03). GLS, native T1 times showed significant moderate correlations to LysoGb3 (p = 0.002 and p < 0.001). Furthermore, GLS and native T1 times reduce when LysoGb3 was elevated and increasingly with presence of left ventricular hypertrophy (LVH) or late gadolinium enhancement (LGE). Conclusions: Native T1 times and strain values differ significantly between FD patients and control subjects and showed promising correlations to the FD specific biomarker LysoGb3. We therefore conclude that strain abnormalities occur early beside native T1 reductions in cardiac FD involvement. Large scale trials are needed to verify our findings.
Highlights
Fabry disease (FD) is an X-linked disorder of lysosomal metabolism
End diastolic volume (EDV) and stroke volume (SV) revealed normal values for FD patients and control subjects but EDV and SV were significantly higher for the control subjects (p = 0.025 and p = 0.026), whereas end systolic volume (ESV)
Intra- and interobserver variability were excellent for left ventricular ejection fraction (LVEF) and for all measured cardiac volumes (EDV, ESV and SV) in FD patients and control subjects (r between 0.9488 and 0.9823)
Summary
Fabry disease (FD) is an X-linked disorder of lysosomal metabolism. It is characterized by accumulation of glycosphingolipids (more precisely globotriaosylceramide) in many organs (inter alia skin, myocardium and kidneys) due to a deficiency of the enzyme alphagalactosidase [1]. Male homozygotes are affected and present with burning extremity pain (acroparaesthesia) and progressive multi-organ failure in adolescence [2]. Heterozygous female carriers may present with milder disease forms compared to men [3]. Cardiac decompensation is triggered by myocardial fibrosis, which is usually more extensive in men than in affected women [1]. Cardiac involvement is a major factor for morbidity and mortality in FD [5]
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