BACKGROUND Cardiac response to enzyme replacement therapy (ERT) in Fabry disease is typically assessed by measuring left ventricular mass index using echocardiography or cardiovascular magnetic resonance, but neither quantifies myocardial biology. Low native T1 in Fabry disease represents sphingolipid accumulation; late gadolinium enhancement with high T2 and troponin elevation reflects inflammation. We evaluated the effect of ERT on myocardial storage, inflammation, and hypertrophy. METHODS Twenty patients starting ERT (60% left ventricular hypertrophy-positive) were compared with 18 patients with early disease and 18 with advanced disease over 1 year at 3 centers. Cardiovascular magnetic resonance (left ventricular mass index, T1, T2, global longitudinal strain, and late gadolinium enhancement) and biomarkers (high-sensitive troponin-T and NT-proBNP [N-terminal Pro-B-type natriuretic peptide]) at baseline (pre-ERT) and 12 months were performed. Early disease controls were stable, treatment-naïve patients (mainly left ventricular hypertrophy-negative); advanced disease controls were stable, established ERT patients (mainly left ventricular hypertrophy-positive). RESULTS Over 1 year, early disease controls increased maximum wall thickness and left ventricular mass index (9.8±2.7 versus 10.2±2.6 mm; P=0.010; 65±15 versus 67±16 g/m2; P=0.005) and native T1 fell (981±58 versus 959±61 ms; P=0.002). Advanced disease controls increased T2 in the late gadolinium enhancement area (57±6 versus 60±7 ms; P=0.023) with worsening global longitudinal strain (-13.2±3.4 versus -12.1±4.8; P=0.039). Newly treated patients had a small reduction in maximum wall thickness (14.8±5.9 versus 14.4±5.7 mm; P=0.028), stable left ventricular mass index (93±42 versus 92±40 g/m2; P=0.186) and a reduction in T1 lowering (917±49 versus 931±54 ms; P=0.017). CONCLUSIONS Fabry myocardial phenotype development is different at different disease stages. After 1 year of ERT initiation, left ventricular hypertrophy-positive patients have a detectable, small reduction in left ventricular mass and storage.

中文翻译：

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一年的酶替代疗法后，法布里病的心肌存储，炎症和心脏表型。

背景技术通常通过使用超声心动图或心血管磁共振测量左心室质量指数来评估法布里病中对酶替代疗法（ERT）的心脏反应，但均不能量化心肌生物学。法布里病中的天然T1低表示鞘脂积聚; 晚期2增强与高T2和肌钙蛋白升高可反映炎症。我们评估了ERT对心肌存储，炎症和肥大的影响。方法在3个中心对20例开始ERT（60％左心室肥大阳性）的患者与18例早期疾病患者和18例1年以上晚期疾病患者进行了比较。心血管磁共振（左心室质量指数，T1，T2，整体纵向应变，在基线（ERT前）和12个月时进行了生物标志物（高敏感性肌钙蛋白T和NT-proBNP [N末端Pro-B型利钠肽]）的检测。早期疾病控制稳定，未经治疗（主要是左室肥厚阴性）。晚期疾病控制稳定的ERT患者（主要是左心室肥大阳性）。结果在1年多的时间里，早期疾病控制者的最大壁厚和左心室质量指数增加（9.8±2.7对10.2±2.6 mm; P = 0.010; 65±15对67±16 g / m2; P = 0.005），而天然T1下降（981±58对959±61 ms； P = 0.002）。晚期疾病对照在g增强后期的T2升高（57±6比60±7 ms； P = 0.023），整体纵向应变变差（-13.2±3.4对-12.1±4.8； P = 0.039）。新治疗的患者的最大壁厚减小了一点点（14.8±5.9对14.4±5.7 mm； P = 0.028），稳定的左心室质量指数（93±42对92±40 g / m2； P = 0.186）和减小T1下降（917±49 vs 931±54 ms; P = 0.017）。结论在不同疾病阶段，法布里心肌表型的发育是不同的。ERT开始1年后，左心室肥大阳性患者的左心室质量和储存量可检测到少量降低。