摘要
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。
The PRKAG2 cardiac syndrome is an unusual autosomal dominant disease caused by the PRKAG2 genetic defect. This gene encodes the gamma-2 regulatory subunit of AMP-activated protein kinase. PRKAG2 cardiac syndrome is a cardiac metabolic disease. This article reviews recent research regarding the pathogenesis of PRKAG2. PRKAG2 cardiac syndrome is characterized by ventricular preexcitation, progressive conduction system disease, and cardiac hypertrophy. Although the clinical phenotype of the PRKAG2 cardiac syndrome is similar to hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrom,there is essential distinction on the pathogenesis among them. The PRKAG2 cardiac syndrome is a cardiac metabolic disease. This article reviews current research on the pathogenesis of the PRKAG2 cardiac syndrome.
出处
《心血管病学进展》
CAS
2012年第1期42-45,共4页
Advances in Cardiovascular Diseases
