PRKAG2心脏综合征是一种由于编码单磷酸腺苷激活蛋白激酶γ2亚基的PRKAG2基因遗传性缺陷导致的罕见的常染色体显性遗传病,它的典型表现为:心室预激、进展性传导系统疾病和心脏肥大。虽然PRKAG2心脏综合征的临床表现与肥厚型心肌病、预激综合征相似,但它们在发病机制上却存在着本质的差别,PRKAG2心脏综合征是一种心脏代谢性疾病。现就近年来对PRKAG2心脏综合征发病机制的研究做一综述。 PRKAG2 Cardiac syndrome is a rare autosomal dominant genetic disease caused by a genetic defect in the PRKAG2 gene encoding the adenosine monophosphate-activated protein kinase γ2 subunit. Its typical manifestations are ventricular pre-excitation, progressive conduction system Disease and cardiac hypertrophy. Although the clinical manifestations of PRKAG2 cardiac syndrome are similar to those of hypertrophic cardiomyopathy and WPW syndrome, their pathogenesis is essentially different. PRKAG2 cardiac syndrome is a cardiometabolic disease. In recent years, the pathogenesis of PRKAG2 heart syndrome is reviewed.