Background Cardiovascular magnetic resonance can demonstrate myocardial processes in Fabry disease (FD), such as low native T1 (sphingolipid storage) and late gadolinium enhancement (LGE, scar). Recently, high T2 (edema) has been observed in the basal inferolateral wall along with troponin elevation. We hypothesized that edema and myocyte injury would be chronically associated and have electrical, mechanical, and disease associations in FD. Methods A prospective international multicenter study was conducted on 186 consecutive FD patients (45.2±1.1 years, 58% females). Additionally, 28 patients with hypertrophic cardiomyopathy, 30 with chronic myocardial infarction and 59 healthy volunteers were included. All study participants underwent comprehensive cardiovascular magnetic resonance with T1 and T2 mapping, cines, and LGE imaging. Results LGE in the basal inferolateral wall in FD had T2 elevation (FD 58.2±5.0 ms versus hypertrophic cardiomyopathy 55.6±4.3 ms, chronic myocardial infarction 53.7±3.4 ms and healthy volunteers 48.9±2.5 ms, P<0.001), but when LGE was present there was also global T2 elevation (53.1±2.9 versus 50.6±2.2 ms, P<0.001). Thirty-eight percent of FD patients had high troponin. The strongest predictor of increased troponin was high basal inferolateral wall T2 (odds ratio, 18.2 [95% CI, 3.7-90.9], P<0.0001). Both T2 and troponin elevations were chronic over 1 year. High basal inferolateral wall T2 was associated with baseline global longitudinal strain impairment (P=0.005) and electrocardiographic abnormalities (long PR, complete bundle branch block, left ventricular hypertrophy voltage criteria, long QTc, and T-wave inversion, all P<0.05) and predicted clinical worsening after 1 year (Fabry stabilization index >20%, P=0.034). Conclusions LGE in Fabry has chronic local T2 elevation that is strongly associated with chronic troponin elevation. In addition, there is slight global T2 elevation. Both are associated with ECG and mechanical changes and clinical worsening over 1 year.

中文翻译：

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Fabry病中的心肌水肿，心肌细胞损伤和疾病严重程度。

背景技术心血管磁共振可以证明法布里病（FD）中的心肌过程，例如低天然T1（鞘脂储存）和late晚期增强（LGE，疤痕）。最近，随着肌钙蛋白的升高，在基底下外侧壁观察到高T2（水肿）。我们假设水肿和心肌细胞损伤将与FD长期相关，并具有电气，机械和疾病方面的关联。方法对186例连续性FD患者（45.2±1.1岁，女性58％）进行了一项前瞻性国际多中心研究。此外，还包括28例肥厚型心肌病，30例慢性心肌梗死和59名健康志愿者。所有研究参与者均接受了具有T1和T2定位，电影和LGE成像的全面心血管磁共振检查。结果FD的下外侧基底侧壁LGE升高（FD 58.2±5.0 ms，肥厚型心肌病55.6±4.3 ms，慢性心肌梗塞53.7±3.4 ms，健康志愿者48.9±2.5 ms，P <0.001）目前还存在总体T2升高（53.1±2.9 vs 50.6±2.2 ms，P <0.001）。FD患者中有38％的肌钙蛋白水平较高。肌钙蛋白升高的最强预测因子是基底下侧壁高T2（比值比为18.2 [95％CI，3.7-90.9]，P <0.0001）。T2和肌钙蛋白升高均超过1年。基底下侧壁高T2与基线整体纵向应变损伤（P = 0.005）和心电图异常（长PR，完全束支传导阻滞，左心室肥大电压标准，长QTc和T波倒置有关，所有P <0。05），并预测1年后临床恶化（Fabry稳定指数> 20％，P = 0.034）。结论Fabry中的LGE具有慢性局部T2升高，这与慢性肌钙蛋白的升高密切相关。此外，全球T2高度略有升高。两者都与心电图和机械变化以及超过1年的临床恶化有关。