Roller Fritz Christian, Fuest Sven, Meyer Marco, Harth Sebastian, Gündüz Dursun, Bauer Pascal, Schneider Christian, Rolfs Arndt, Krombach Gabriele Anja, Tanislav Christian
Diagnostic and Interventional Radiology, Justus-Liebig-University, Giessen, Germany.
Neurology, Justus-Liebig-University, Giessen, Germany.
Rofo. 2019 Oct;191(10):932-939. doi: 10.1055/a-0836-2723. Epub 2019 Feb 12.
Fabry disease (FD) is an X-linked multi-organ disorder of lysosomal metabolism with cardiac disease being the leading cause of death. Identifying early FD-specific pathologies is important in the context of maximum therapeutic benefit in these stages. Therefore, the aim of this study was to investigate the value of quantitative cardiac T1 mapping as a potential disease-specific surrogate.
16 consecutive FD patients (9 female, 7 male; median age: 54 years, IQR 17) and 16 control patients (9 female, 7 male; median age: 52 years, IQR 20) were investigated at 1.5 Tesla. Native T1 mapping was performed using a modified look locker inversion recovery sequence (MOLLI) and native T1 times were measured within the septal myocardium at the midventricular short-axis section. Also functional parameters, left ventricular morphology, presence of late-gadolinium enhancement, cTnI- and Lyso-Gb3-Levels were evaluated.
The median native septal T1 time for FD was 889.0 ms and 950.6 ms for controls (p < 0.003). LGE and positive cTnI values (0.26 ± 0.21) were present in 5 FD patients (31.25 %), and left ventricular hypertrophy (LVH) was present in 4 FD patients (25.00 %). The 4 cTnI and 8 Lyso-Gb3 positive FD patients had significantly lower native T1 values (p < 0.05, respectively p < 0.01). Assuming a T1 cut-off value of 900 ms for the identification of increased cardiac lipid deposit, 9 patients with FD (56.25 %) had pathologic values (4 patients cTnI and 8 patients Lyso-Gb3 positive). Moreover, native septal T1 showed a good negative correlation to Lyso-Gb3 (r = - 0.582; p = 0.018).
A pathologic cardiac native T1 time obviously reflects cardiac involvement in the scope of FD at tissue level. In the future native T1 mapping as an imaging biomarker might allow identification of early stages of cardiac involvement in FD before morphological changes are obvious.
· Native T1 values are significantly decreased in Fabry disease.. · Native T1 shows promising correlation to cardiac and Fabry-specific biomarkers.. · Native T1 mapping might have great potential for early disease detection and therapy monitoring..
· Roller FC, Fuest S, Meyer M et al. Assessment of Cardiac Involvement in Fabry Disease (FD) with Native T1 Mapping. Fortschr Röntgenstr 2019; 191: 932 - 939.
法布里病（FD）是一种X连锁的溶酶体代谢多器官疾病，心脏病是主要死因。在这些阶段实现最大治疗效益的背景下，识别早期FD特异性病理变化很重要。因此，本研究的目的是探讨定量心脏T1 mapping作为潜在疾病特异性替代指标的价值。
对16例连续的FD患者（9例女性，7例男性；中位年龄：54岁，四分位间距17）和16例对照患者（9例女性，7例男性；中位年龄：52岁，四分位间距20）在1.5特斯拉下进行研究。使用改良的Look-Locker反转恢复序列（MOLLI）进行心脏T1 mapping，并在心室短轴切面的间隔心肌内测量T1值。同时评估功能参数、左心室形态、延迟钆增强的存在、肌钙蛋白I（cTnI）和溶酶体Gb3水平。
FD患者的间隔心肌T1值中位数为889.0毫秒，对照组为950.6毫秒（p<0.003）。5例FD患者（31.25%）出现延迟钆增强和cTnI阳性值（0.26±0.21），4例FD患者（25.00%）出现左心室肥厚（LVH）。4例cTnI阳性和8例溶酶体Gb3阳性的FD患者的T1值显著降低（分别为p<0.05和p<0.01）。假设以900毫秒的T1截止值来识别心脏脂质沉积增加，9例FD患者（56.25%）有病理值（4例cTnI阳性和8例溶酶体Gb3阳性）。此外，间隔心肌T1与溶酶体Gb3呈良好的负相关（r=-0.582；p=0.018）。
病理性心脏T1时间明显反映了FD范围内心脏在组织水平的受累情况。未来，T1 mapping作为一种成像生物标志物可能有助于在形态学变化明显之前识别FD心脏受累的早期阶段。
·法布里病患者的T1值显著降低。·T1与心脏和法布里病特异性生物标志物有良好的相关性。·T1 mapping在疾病早期检测和治疗监测方面可能具有巨大潜力。
·Roller FC, Fuest S, Meyer M等。用心脏T1 mapping评估法布里病（FD）的心脏受累情况。Fortschr Röntgenstr 2019；191：932-939。
