糖原心综合征 (Pompe’s Syndrome) 本征系指心肌内有过多的糖原蓄积,并由此引起心功能障碍而致死亡。本征是比较罕见的先天性代谢异常的疾病。本征的病因不详,似乎有遗传倾向(这是因为在某些家系中发现同胞病例,但大多数患者查不出家族史),其病理改变主要是心肌内糖原沉积过多,究竟是因为糖原分解障碍为主要原因,还是因为糖原合成亢进是其主要原因,目前还尚不清楚。临床表现出生后不久即有不安,呼吸增快而浅表,具有显著的紫绀。 X线表现可见有球形巨大心脏,这是由肥厚 Pompe’s Syndrome Intrinsic means that there is excessive accumulation of glycogen in the myocardium, which can cause cardiac dysfunction and cause death. Intrinsic is a relatively rare congenital metabolic disorder. The etiology of the etiology is unknown and seems to be genetically predisposed (this is because females are found in some pedigrees, but most patients do not have a family history of disease). The pathological changes are mainly due to excessive deposition of glycogen in the myocardium Glycogen breakdown disorder as the main reason, or because glycogen synthesis is the main reason for hyperthyroidism, it is still not clear. Shortly after the onset of clinical manifestations of unease, rapid and shallow breathing, with significant cyanosis. X-ray shows a huge spherical heart, which is caused by hypertrophy