BACKGROUND Cardiac involvement is common and is the leading cause of mortality in Fabry disease (FD). We explored the association between cardiovascular magnetic resonance (CMR) myocardial strain, T1 mapping, late gadolinium enhancement (LGE) and left ventricular hypertrophy (LVH) in patients with FD. METHODS In this prospective study, 38 FD patients (45.0 ± 14.5 years, 37% male) and 8 healthy controls (40.1 ± 13.7 years, 63% male) underwent 3 T CMR including cine balanced steady-state free precession (bSSFP), LGE and modified Look-Locker Inversion recovery (MOLLI) T1 mapping. Global longitudinal (GLS) and circumferential (GCS) strain and base-to-apex longitudinal strain (LS) and circumferential strain (CS) gradients were derived from cine bSSFP images using feature tracking analysis. RESULTS Among FD patients, 8 had LVH (FD LVH+, 21%) and 17 had LGE (FD LGE+, 45%). Nineteen FD patients (50%) had neither LVH nor LGE (FD LVH- LGE-). None of the healthy controls had LVH or LGE. FD patients and healthy controls did not differ significantly with respect to GLS (- 15.3 ± 3.5% vs. - 16.3 ± 1.5%, p = 0.45), GCS (- 19.4 ± 3.0% vs. -19.5 ± 2.9%, p = 0.84) or base-to-apex LS gradient (7.5 ± 3.8% vs. 9.3 ± 3.5%, p = 0.24). FD patients had significantly lower base-to-apex CS gradient (2.1 ± 3.7% vs. 6.5 ± 2.2%, p = 0.002) and native T1 (1170.2 ± 37.5 ms vs. 1239.0 ± 18.0 ms, p < 0.001). Base-to-apex CS gradient differentiated FD LVH- LGE- patients from healthy controls (OR 0.42, 95% CI: 0.20 to 0.86, p = 0.019), even after controlling for native T1 (OR 0.24, 95% CI: 0.06 to 0.99, p = 0.049). In a nested logistic regression model with native T1, model fit was significantly improved by the addition of base-to-apex CS gradient (χ2(df = 1) = 11.04, p < 0.001). Intra- and inter-observer agreement were moderate to good for myocardial strain parameters: GLS (ICC 0.849 and 0.774, respectively), GCS (ICC 0.831 and 0.833, respectively), and base-to-apex CS gradient (ICC 0.737 and 0.613, respectively). CONCLUSIONS CMR reproducibly identifies myocardial strain abnormalities in FD. Loss of base-to-apex CS gradient may be an early marker of cardiac involvement in FD, with independent and incremental value beyond native T1.

中文翻译：

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法布里病中心血管磁共振评估的基部到顶点圆周应变梯度的损失：与 T1 映射、晚期钆增强和肥大的关系。


背景技术心脏受累很常见，并且是法布里病（FD）死亡的主要原因。我们探讨了 FD 患者心血管磁共振 (CMR) 心肌应变、T1 标测、晚期钆增强 (LGE) 与左心室肥厚 (LVH) 之间的关联。方法 在这项前瞻性研究中，38 名 FD 患者（45.0 ± 14.5 岁，37% 男性）和 8 名健康对照者（40.1 ± 13.7 岁，63% 男性）接受了 3 T CMR，包括电影平衡稳态自由进动 (bSSFP)、LGE并修改了 Look-Locker 反转恢复 (MOLLI) T1 映射。使用特征跟踪分析从电影 bSSFP 图像中导出全局纵向 (GLS) 和周向 (GCS) 应变以及基部到顶点的纵向应变 (LS) 和周向应变 (CS) 梯度。结果 FD 患者中，8 例患有 LVH（FD LVH+，21%），17 例患有 LGE（FD LGE+，45%）。 19 名 FD 患者 (50%) 既没有 LVH 也没有 LGE (FD LVH-LGE-)。健康对照者均未出现 LVH 或 LGE。 FD 患者和健康对照在 GLS（- 15.3 ± 3.5% 与 - 16.3 ± 1.5%，p = 0.45）、GCS（- 19.4 ± 3.0% 与 -19.5 ± 2.9%，p = 0.84）方面没有显着差异。 ）或基部到顶点 LS 梯度（7.5 ± 3.8% 与 9.3 ± 3.5%，p = 0.24）。 FD 患者的基部到顶点 CS 梯度显着较低（2.1 ± 3.7% 对比 6.5 ± 2.2%，p = 0.002）和天然 T1（1170.2 ± 37.5 ms 对比 1239.0 ± 18.0 ms，p < 0.001）。即使在控制天然 T1（OR 0.24，95% CI：0.06 至0.99，p = 0.049）。在具有原生 T1 的嵌套逻辑回归模型中，通过添加基部到顶点 CS 梯度，模型拟合得到显着改善 (χ2(df = 1) = 11.04，p < 0.001）。 心肌应变参数的观察者内和观察者间一致性为中等到良好：GLS（ICC 分别为 0.849 和 0.774）、GCS（ICC 分别为 0.831 和 0.833）以及基部到心尖 CS 梯度（ICC 0.737 和 0.613，分别）。结论 CMR 可重复地识别 FD 中的心肌应变异常。基部到心尖 CS 梯度的丧失可能是 FD 心脏受累的早期标志，具有超出天然 T1 的独立和增量价值。