Walter Thula C, Knobloch Gesine, Canaan-Kuehl Sima, Greiser Andreas, Sandek Anja, Blaschke Daniela, Denecke Timm, Hamm Bernd, Makowski Marcus R
1 Department of Radiology, Charité, Germany.
2 Department of Nephrology, Charité, Germany.
Acta Radiol. 2017 Aug;58(8):914-921. doi: 10.1177/0284185116675657. Epub 2016 Oct 31.
Background Anderson-Fabry disease (AFD) is an X-linked lysosomal enzyme disorder associated with an intracellular accumulation of sphingolipids, which shorten myocardial T1 relaxation times. Myocardial affection, however, varies between different segments. Purpose To evaluate the specific segmental distribution and degree of segmental affection in AFD patients. Material and Methods Twenty-five patients with AFD, 14 patients with hypertrophic cardiomyopathy (HCM), and 21 controls were included. A Modified Look-Locker Inversion Recovery sequence (MOLLI) was used for non-enhanced T1 mapping at 1.5 T in addition to standard cardiac imaging in 10-12 short axis views. T1 values were evaluated with a mixed model ANOVA and regression analysis to determine the best diagnostic cutoff values for T1 for each myocardial segment. Results Regression analysis showed the best diagnostic cutoff compared to controls in cardiac segments 1-4, 8-9, and 14. Mean differences between T1 for AFD versus HCM were greatest in segment 3, 4, and 9 (99 ms, 103 ms, 86 ms, respectively). Overall T1 times were 888 ± 70 ms and 903 ± 14 ms (AFD with and without LVH); 1014 ± 17 ms and 1001 ± 22 ms (HCM and controls, P < 0.05). Conclusion Myocardial segments are affected by a varying degree of T1 shortening in AFD patients. Segment-specific cutoff values allow the most specific detection and quantification of the extent of myocardial affection.
安德森-法布里病（AFD）是一种X连锁溶酶体酶紊乱疾病，与鞘脂在细胞内蓄积有关，鞘脂蓄积会缩短心肌T1弛豫时间。然而，心肌受累情况在不同节段有所不同。目的：评估AFD患者心肌节段的特定分布及节段受累程度。材料与方法：纳入25例AFD患者、14例肥厚型心肌病（HCM）患者和21例对照者。除了在10 - 12个短轴视图下进行标准心脏成像外，还使用改良的Look-Locker反转恢复序列（MOLLI）在1.5T下进行非增强T1映射。采用混合模型方差分析和回归分析评估T1值，以确定每个心肌节段T1的最佳诊断临界值。结果：回归分析显示，在心脏节段1 - 4、8 - 9和14中，与对照组相比有最佳诊断临界值。AFD与HCM的T1平均差异在节段3、4和9中最大（分别为99ms、103ms、86ms）。总体T1时间分别为888±70ms和903±14ms（有和无左心室肥厚的AFD患者）；1014±17ms和1001±22ms（HCM患者和对照者，P < 0.05）。结论：AFD患者的心肌节段受到不同程度的T1缩短影响。节段特异性临界值能够最特异性地检测和量化心肌受累程度。
