Departments of Biomedical Engineering, Medical Genetics, and Division of Cardiology, Mazankowski Alberta Heart Institute, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada; and Department of Medical Genetics and Pediatrics, University of Calgary, Calgary, Alberta, Canada.
Circ Cardiovasc Imaging. 2013 Sep;6(5):637-45. doi: 10.1161/CIRCIMAGING.113.000482. Epub 2013 Aug 6.
Fabry disease (FD) is an X-linked disorder of lysosomal metabolism affecting multiple organs with cardiac disease being the leading cause of death. Current imaging evaluations of the heart are suboptimal. The goals of the current study are to evaluate the potential of quantitative T₁ mapping with cardiovascular MRI as a disease-specific imaging biomarker.
A total of 31 patients with FD, 23 healthy controls, and 21 subjects with concentric remodeling or hypertrophy underwent cardiovascular MRI to measure left ventricular (LV) morphology, function, delayed enhancement, as well as myocardial T₁ values, and derived parameters (extracellular volume). All subjects had LV ejection fraction >50% and similar volumes. FD and concentric remodeling or hypertrophy had similarly increased mass, wall thickness, and mass/volume as compared with controls. A total of 16 of 31 FD subjects and 10 of 21 concentric remodeling or hypertrophy subjects had LV hypertrophy. Noncontrast myocardial T₁ values were substantially lower in FD as compared with controls and concentric remodeling or hypertrophy (1070 ± 50, 1177 ± 27, and 1207 ± 33 ms, respectively; P<0.001), but extracellular volume was similar in all groups (21.7 ± 2.4%, 22.2 ± 3.1%, and 21.8 ± 3.9%, respectively). Single-voxel NMR spectroscopy in 4 FD and 4 healthy control subjects showed a significant negative linear relationship between lipid content and noncontrast T₁ values (r=-0.9; P=0.002). Female subjects had lower LV mass and wall thickness, longer myocardial T₁ values and larger extracellular volume suggesting a key sex difference in cardiac remodeling.
Reduced noncontrast myocardial T₁ values are the most sensitive and specific cardiovascular MRI parameter in patients with FD irrespective of sex and LV morphology and function.
法布里病（FD）是一种影响多个器官的溶酶体代谢异常的 X 连锁疾病，心脏病是导致死亡的主要原因。目前心脏的影像学评估并不理想。本研究的目的是评估心血管 MRI 定量 T₁ 映射作为一种疾病特异性成像生物标志物的潜力。
共 31 例 FD 患者、23 例健康对照者和 21 例同心性重构或肥厚患者接受心血管 MRI 测量左心室（LV）形态、功能、延迟强化以及心肌 T₁ 值和衍生参数（细胞外容积）。所有患者的 LV 射血分数均>50%，且容积相似。FD 和同心性重构或肥厚的质量、壁厚度和质量/容积与对照组相似。31 例 FD 患者中有 16 例和 21 例同心性重构或肥厚患者中有 10 例存在 LV 肥厚。与对照组和同心性重构或肥厚组相比，FD 患者的非对比心肌 T₁ 值明显较低（分别为 1070±50、1177±27 和 1207±33 ms；P<0.001），但细胞外容积在所有组之间相似（分别为 21.7±2.4%、22.2±3.1%和 21.8±3.9%）。4 例 FD 患者和 4 例健康对照者的单光子磁共振波谱显示脂质含量与非对比 T₁ 值之间存在显著的负线性关系（r=-0.9；P=0.002）。女性患者的 LV 质量和壁厚度较低，心肌 T₁ 值较长，细胞外容积较大，提示心脏重构存在关键的性别差异。
无论性别和 LV 形态和功能如何，降低的非对比心肌 T₁ 值是 FD 患者最敏感和特异的心血管 MRI 参数。
