Gruner Christiane, Verocai Flavia, Carasso Shemy, Vannan Mani A, Jamorski Michael, Clarke Joe T R, Care Melanie, Iwanochko Robert M, Rakowski Harry
Division of Cardiology, Peter Munk Cardiac Centre, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada.
Echocardiography. 2012 Aug;29(7):810-7. doi: 10.1111/j.1540-8175.2012.01704.x. Epub 2012 Apr 13.
Anderson-Fabry disease (AFD) is a lysosomal storage disease, which can involve the heart, mimicking hypertrophic cardiomyopathy (HCM). The underlying mechanism of disease in AFD is an infiltrative, diffuse process, whereas HCM is a primary heart muscle condition with patchy distribution, which may prompt differences in myocardial mechanics. The aim of this study was to assess myocardial mechanics in AFD according to the presence of left ventricular hypertrophy (LVH) compared to nonobstructive HCM (NHCM) and healthy controls.
We carried out a single-center, retrospective study in a small, genetically confirmed AFD cohort, which was divided into a subgroup with LVH (LVH+, n = 19), and without LVH (LVH-, n = 21). Comparison groups were healthy controls (n = 40) and NHCM patients (n = 19). Vector Velocity Imaging was applied to two-dimensional echocardiography studies for assessment of longitudinal strain (LS), circumferential strain (CS), and base-to-apex CS gradients. AFD LVH+ patients had lower global LS than AFD LVH- patients (-14 ± 4% vs -17 ± 3%, P < 0.05), but similarly lowered global CS (-24 ± 5% vs -22 ± 5%, P = ns). AFD LVH+ and NHCM had similarly lowered global LS compared to normals, but significantly lower global CS was observed in AFD LVH+ (-24 ± 5% vs -28 ± 4%, P < 0.05), whereas it was significantly increased in NHCM (-31 ± 2% vs -28 ± 4%, P < 0.05). Unlike NHCM, in both AFD subgroups, patients lost their normal base-to-apex CS gradient.
AFD patients without LVH already show abnormal systolic myocardial mechanics. Relevant differences in myocardial mechanics between AFD patients with LVH compared to NHCM reflect the different underlying mechanisms of disease.
安德森 - 法布里病（AFD）是一种溶酶体贮积病，可累及心脏，酷似肥厚型心肌病（HCM）。AFD的潜在疾病机制是一种浸润性、弥漫性过程，而HCM是一种原发性心肌疾病，呈斑片状分布，这可能导致心肌力学存在差异。本研究的目的是根据左心室肥厚（LVH）的存在情况，评估AFD患者与非梗阻性HCM（NHCM）及健康对照者相比的心肌力学。
我们在一个经基因确诊的小型AFD队列中进行了一项单中心回顾性研究，该队列分为有LVH的亚组（LVH +，n = 19）和无LVH的亚组（LVH -，n = 21）。比较组为健康对照者（n = 40）和NHCM患者（n = 19）。将向量速度成像应用于二维超声心动图研究，以评估纵向应变（LS）、圆周应变（CS）以及心底至心尖的CS梯度。AFD LVH +患者的整体LS低于AFD LVH -患者（-14±4%对-17±3%，P < 0.05），但整体CS同样降低（-24±5%对-22±5%，P =无统计学意义）。与正常对照相比，AFD LVH +和NHCM的整体LS同样降低，但AFD LVH +患者的整体CS显著降低（-24±5%对-28±4%，P < 0.05），而NHCM患者的整体CS显著增加（-31±2%对-28±4%，P < 0.05）。与NHCM不同，在AFD的两个亚组中，患者均失去了正常的心底至心尖CS梯度。
无LVH的AFD患者已表现出收缩期心肌力学异常。与NHCM相比，有LVH的AFD患者心肌力学的相关差异反映了不同的潜在疾病机制。
