Weidemann Frank, Breunig Frank, Beer Meinrad, Sandstede Joern, Störk Stefan, Voelker Wolfram, Ertl Georg, Knoll Anita, Wanner Christoph, Strotmann Joerg M
Department of Internal Medicine I, Divisions of Cardiology and Nephrology, Medical University Clinic, University of Würzburg, 97080 Wuerzburg, Germany.
Eur Heart J. 2005 Jun;26(12):1221-7. doi: 10.1093/eurheartj/ehi143. Epub 2005 Feb 23.
The aim of this clinical cross-sectional study was to investigate the cardiac interrelation of morphological and functional abnormalities in patients with Fabry disease.
Fifty-one patients (5-78 years) were compared with 25 controls (8-77 years). In all subjects, end-diastolic thickness of the left ventricle was measured by echocardiography and ultrasonic peak systolic strain rate (SR) was extracted to assess regional myocardial function. Magnetic resonance imaging was performed to assess late-enhancement for the detection of myocardial fibrosis in Fabry patients (n=39). In patients, women <20 years of age had no hypertrophy, no late-enhancement, and normal radial and longitudinal function (SR longitudinal=-1.7+/-0.5 s(-1); P=n.s. compared with controls). Ten women, >20 years of age, had no hypertrophy, no late-enhancement, normal radial and longitudinal function in the septal wall, but reduced longitudinal function in the lateral wall (SR=-1.4+/-0.5 s(-1)). All male patients without hypertrophy and no late-enhancement had normal radial function but reduced longitudinal function in both the septal and lateral walls (SR=-1.3+/-0.3 s(-1)). Patients with hypertrophy but without late-enhancement (n=13) had reduced radial and longitudinal function. Twelve patients displaying hypertrophy and late-enhancement had severely reduced radial and longitudinal function (SR=-1.1+/-0.5 s(-1)). Two of them with the worst impairment of regional function (SR=-0.8+/-0.6 s(-1)) died in the follow-up period.
These results illustrate the variation of morphological changes and its functional consequences in Fabry cardiomyopathy.
本临床横断面研究旨在调查法布里病患者形态学和功能异常之间的心脏内在关系。
将51例患者（年龄5 - 78岁）与25例对照者（年龄8 - 77岁）进行比较。对所有受试者采用超声心动图测量左心室舒张末期厚度，并提取超声峰值收缩应变率（SR）以评估局部心肌功能。对法布里病患者（n = 39）进行磁共振成像以评估延迟强化，用于检测心肌纤维化。在患者中，年龄小于20岁的女性无心肌肥厚、无延迟强化，径向和纵向功能正常（纵向SR = -1.7±0.5 s⁻¹；与对照组相比，P无统计学意义）。10例年龄大于20岁的女性无心肌肥厚、无延迟强化，室间隔壁的径向和纵向功能正常，但侧壁纵向功能降低（SR = -1.4±0.5 s⁻¹）。所有无心肌肥厚且无延迟强化的男性患者径向功能正常，但室间隔壁和侧壁的纵向功能均降低（SR = -1.3±0.3 s⁻¹）。有心肌肥厚但无延迟强化的患者（n = 13）径向和纵向功能降低。12例有心肌肥厚且有延迟强化的患者径向和纵向功能严重降低（SR = -1.1±0.5 s⁻¹）。其中2例局部功能损害最严重（SR = -0.8±0.6 s⁻¹）的患者在随访期间死亡。
这些结果说明了法布里心肌病形态学变化及其功能后果的差异。
