摘要
糖原贮积型心肌病是一类由糖原代谢障碍引起糖原在心肌细胞内过度累积所致的心肌病,其中最常见的类型包括糖原贮积病Ⅱ型(庞贝病)、Danon病及PRKAG2心脏综合征,是儿童肥厚型心肌病的重要病因。糖原贮积型心肌病的主要表现包括心肌肥厚、心律失常、心力衰竭等,甚至可引起早期死亡。早期识别和诊断,并做出精准的干预,有望改善心肌病的症状,提高患者的生存质量。因此,提高临床医师对糖原贮积性心肌病的认识具有重要意义。
Glycogen storage cardiomyopathy is a class of cardiomyopathies caused by the excessive accumulation of glycogen in myocardial cells due to defects in glycogen metabolism.The most common types include glycogen storage disease typeⅡ(Pompe disease),Danon disease,and PRKAG2 cardiac syndrome.These conditions are important etiology of hypertrophic cardiomyopathy in children.The main symptoms of glycogen storage cardiomyopathy include myocardial hypertrophy,arrhythmias,and heart failure.In severe cases,it can lead to early death.Early recognition and diagnosis,along with appropriate intervention,have the potential to improve symptoms of cardiomyopathy and enhance the quality of life for patients.Therefore,increasing the awareness of glycogen storage cardiomyopathies among clinical physicians is of significant importance.
作者
傅立军
乔钰惠
FU Lijun;QIAO Yuhui(Department of Cardiology,Shanghai Children's Medical Center,Shanghai Jiao Tong University School of Medicine,Shanghai 200127,China)
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2024年第10期837-842,共6页
Journal of Clinical Pediatrics
基金
国家重点研发计划(No.2023YFC2706201)
国家自然科学基金项目(No.81974029)。
