Palecek Tomas, Linhart Ales, Lubanda Jean Claude, Magage Sudheera, Karetova Debora, Bultas Jan, Aschermann Michael
Second Department of Internal Medicine, First School of Medicine, Charles University, U nemocnice 2, 128 08 Prague 2, Czech Republic,
Heart Vessels. 2006 Jan;21(1):13-9. doi: 10.1007/s00380-005-0852-6.
Fabry disease is an X-linked genetic disorder characterized by progressive intracellular accumulation of neutral glycosphingolipids. Cardiac involvement is frequent and left ventricular (LV) diastolic dysfunction is present in most of the affected subjects. Pulsed-wave tissue Doppler echocardiography (PW-TDE) and color M-mode are new Doppler methods for LV diastolic function evaluation. Their role in the assessment of Fabry disease-related cardiomyopathy remains to be established. In this study we aimed to determine the utility of PW-TDE and color M-mode-derived parameters in the assessment of LV diastolic function in patients with Fabry disease. Eighty-one echocardiographic examinations performed in 35 patients affected by Fabry disease were retrospectively analyzed. Early diastolic lateral mitral annular velocity (E(m)) determined by PW-TDE and color M-mode flow propagation velocity (V(p)) were measured and compared to LV filling patterns obtained using standard Doppler indexes. The receiver operating characteristics (ROC) curves method was used to determine the summary measure of relative accuracy for E(m) and V(p). A comparison of ROC curves showed a significant difference for areas under the curve in favor of E(m) (P < 0.001). Pseudonormal filling pattern, higher LV mass index, higher relative wall thickness, larger left atrial diameter, and older age were more frequent (all P < 0.001) in patients with incorrect diagnosis of normal LV diastolic function based on the measurement of V(p). E(m) appears to be superior to V(p) in the assessment of LV diastolic function in patients with Fabry disease. V(p) fails to detect abnormal LV diastolic function in subjects with pronounced concentric LV remodeling and pseudonormal filling pattern.
法布里病是一种X连锁遗传性疾病，其特征为中性糖鞘脂在细胞内进行性蓄积。心脏受累很常见，大多数受累患者存在左心室（LV）舒张功能障碍。脉冲波组织多普勒超声心动图（PW-TDE）和彩色M型超声是评估LV舒张功能的新型多普勒方法。它们在法布里病相关性心肌病评估中的作用尚待确定。在本研究中，我们旨在确定PW-TDE和彩色M型超声衍生参数在评估法布里病患者LV舒张功能中的效用。对35例法布里病患者进行的81次超声心动图检查进行了回顾性分析。测量了PW-TDE测定的舒张早期二尖瓣环侧壁速度（E(m)）和彩色M型超声的血流传播速度（V(p)），并与使用标准多普勒指标获得的LV充盈模式进行比较。采用受试者工作特征（ROC）曲线法确定E(m)和V(p)相对准确性的汇总指标。ROC曲线比较显示曲线下面积存在显著差异，E(m)更具优势（P < 0.001）。基于V(p)测量被误诊为LV舒张功能正常的患者中，伪正常充盈模式、更高的LV质量指数、更高的相对室壁厚度、更大的左心房直径和更高的年龄更为常见（所有P < 0.001）。在评估法布里病患者的LV舒张功能时，E(m)似乎优于V(p)。V(p)无法检测出具有明显向心性LV重构和伪正常充盈模式的受试者的LV舒张功能异常。
