Division of Cardiac and Vascular Sciences, St. George's University of London, London, United Kingdom.
J Cardiovasc Electrophysiol. 2010 Mar;21(3):329-32. doi: 10.1111/j.1540-8167.2009.01578.x. Epub 2009 Sep 1.
Mutations in the PRKAG2 gene that regulates the gamma 2 subunit of the AMP-dependent protein kinase A have been associated with the development of AV accessory pathways, cardiac hypertrophy, and conduction system abnormalities. The accessory pathways described in PRKAG2 disease have mostly been AV bypass tracts, as mutations in the PRKAG2 gene disrupt the normal AV junction development. There have also been a few reports of nodoventricular tracts associated with PRKAG2 mutations, as these tracts also involve the AV junction. We describe a case of a fasciculoventricular pathway with PRKAG2 mutation suggesting a more widespread involvement of the PRKAG2 gene in the development of the cardiac conduction system.
PRKAG2 基因的突变与 AMP 依赖蛋白激酶 A 的γ2 亚基的调节有关，与房室旁路、心脏肥大和传导系统异常的发展有关。PRKAG2 疾病中描述的旁路大多为房室旁路，因为 PRKAG2 基因突变会破坏正常的房室结发育。也有少数关于与 PRKAG2 突变相关的结下室旁路的报道，因为这些旁路也涉及房室结。我们描述了一例伴有 PRKAG2 突变的间隔室旁路病例，提示 PRKAG2 基因更广泛地参与了心脏传导系统的发育。
