PRKAG2心脏综合征：家族性心室预激、传导系统病变及心肌肥厚
摘要
家族性心律失常的遗传学研究建立了室性心律失常和分子遗传学基础，目前长QT综合征、Bmgada综合征及多形性室速的致病基因已经明确，但除了SCN5A基因突变导致传导系统病变外，对于更为常见的室上性心律失常的基因研究尚未取得突破。最近我们发现了一种由于基因异常导致的家族性心律失常综合征，它表现为心室预激及快速性心律失常(Wolff-Parkinson—White综合征)，进展性的传导系统病变及心肌肥厚。致病基因编码AMP激活蛋白激酶的Y—2调节亚单位(PRKAG2)，AMP激活蛋白激酶的主要作用是调节肌肉的糖代谢，这提示PRKAG2的基因突变会导致以前未曾报道过的心脏糖原综合征。
出处
《世界医学杂志》
2003年第2期11-14,共4页
International Journal of Medicine
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