糖原贮积型心肌病的诊治现状及进展

doi:10.12372/jcp.2024.24e0922

Abstract

Abstract:

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 type Ⅱ (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.

Key words: glycogen storage cardiomyopathy, Pompe disease, Danon disease, PRKAG2 cardiac syndrome

FU Lijun, QIAO Yuhui. The current status and progress of diagnosis and treatment of glycogen storage cardiomyopathy[J].Journal of Clinical Pediatrics, 2024, 42(10): 837-842.

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