Objective To summarize the clinical manifestations of cardiovascular system in glycogen storage disease ( GSD ) type Ⅱ. Method The clinical data of GSD type Ⅱ patients in our hospital from Jan, 2006 to Apr, 2010 was reviewed. Their electrocardiography ( ECG ) and echocardiography ( Echo ) features were analyzed. Results Two of the 4 patients were infantile with presenting progressive symptoms and severe cardiac involvement including hypertrophic cardionyopathy, left ventricular dysfunction and pericardial effusion. The other 2 cases were late onset with less affected of heart. Most of the cases had poor prognosis. 3 cases were dead,1 case need ventilator. Conclusion GSD type Ⅱ patients may present severe cardiac complications and should be given enzyme replacement therapy as early as possible.p%目的 总结糖原累积病II型(GSD II型)患者的临床特点特别是心脏表现,以提高认识.方法 回顾性分析2006年1月-2010年4月收治的4例GSD II型患者的临床表现、实验室检查、心电图(ECG)和超声心动图结果 、治疗及转归情况并复习文献.结果 本组GSD II型患者4例,2例为经典早发型,2例为晚发型,前者病情重、进展快,心脏出现室壁增厚、左室收缩功能减低、心包积液等多种病变,预后差;后者以骨骼肌、呼吸肌受累为主,心脏受累轻.经对症支持治疗3例死亡,1例仍需呼吸机辅助呼吸.结论 GSD II型患者以经典早发型病情为重、心脏病变突出,预后较差,应考虑尽早进行酶替代治疗.
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