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Fabry病是X染色体连锁隐性遗传的溶酶体存贮障碍疾病。Fabry病心血管损害很普遍。心脏功能障碍主要是因为鞘糖脂沉积在心肌细胞及传导组织,但是对于心肌病来说最重要的是心肌细胞的增生及纤维化。心电图及超声心动图表现能鉴别不同原因引起的左室肥厚。心脏磁共振不仅用于心脏功能的检测,还可用于组织异常的检测。酶替代疗法可以降低心脏事件的发生率,改善心肌肥厚;在心肌纤维化发展之前进行治疗能改善心脏功能和防止容量负荷的恶化。中年人出现心肌肥厚,在无其他常见原因时应该检测α-半乳糖苷酶是否缺乏。
Fabry disease is a recessive X-linked lysosomal storage disorder. Fabry’s Disease Cardiovascular damage is common. Cardiac dysfunction is mainly due to deposition of glycosphingolipids in cardiomyocytes and conductive tissues, but the most important for cardiomyopathy is cardiomyocyte hyperplasia and fibrosis. ECG and echocardiographic performance can identify different causes of left ventricular hypertrophy. Cardiac magnetic resonance is not only used for the detection of cardiac function, but also for the detection of abnormal tissue. Enzyme replacement therapy can reduce the incidence of cardiac events and improve cardiac hypertrophy; treatment before myocardial fibrosis can improve cardiac function and prevent the capacity load deterioration. Middle-aged patients with hypertrophic heart, in the absence of other common causes should be detected a-galactosidase deficiency.