Potassium channel gene mutations rarely cause atrial fibrillation.
Potassium channel gene mutations rarely cause atrial fibrillation.
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DOI：
10.1186/1471-2350-7-70
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发表时间：
2006-08-03
影响因子：
--
通讯作者：
MacRae CA
中科院分区：
文献类型：
--
作者：
Ellinor PT;Petrov-Kondratov VI;Zakharova E;Nam EG;MacRae CA
几种钾通道亚单位的突变与罕见的房颤有关。为了探索钾通道在遗传性典型心律失常中的作用，我们对来自转诊诊所的一组患者进行了筛选，以了解与心律失常有关的通道亚基基因突变。我们试图确定KCNJ 2和KCNE 1 -5突变是否是房颤的常见原因。2001年6月1日至2005年1月6日期间，入选了一系列孤立性房颤或房颤伴高血压患者。每位患者均接受标准化面谈和体格检查。还获得了心电图、超声心动图和用于遗传分析的血液样本。使用自动测序技术对有AF家族史的患者进行KCNJ 2和KCNE 1 -5突变筛查。入选96例家族性房颤患者。83例患者有孤立性房颤，13例有房颤和高血压。患者入组时的平均年龄为56岁，房颤发作时的平均年龄为46岁。81%的患者在入组时患有阵发性房颤。与KCNQ 1激活突变患者不同，患者QTc间期正常，平均为412 ± 42 ms。超声心动图显示射血分数正常，平均为62.0 ± 7.2%，左心房平均直径为39.9 ± 7.0 mm。确定了KCNJ 2和KCNE 1 -5的一些常见多态性，但未检测到突变。KCNJ 2和KCNE 1 -5的突变很少在转诊诊所人群中引起典型的房颤。
Mutations in several potassium channel subunits have been associated with rare forms of atrial fibrillation. In order to explore the role of potassium channels in inherited typical forms of the arrhythmia, we have screened a cohort of patients from a referral clinic for mutations in the channel subunit genes implicated in the arrhythmia. We sought to determine if mutations in KCNJ2 and KCNE1-5 are a common cause of atrial fibrillation. Serial patients with lone atrial fibrillation or atrial fibrillation with hypertension were enrolled between June 1, 2001 and January 6, 2005. Each patient underwent a standardized interview and physical examination. An electrocardiogram, echocardiogram and blood sample for genetic analysis were also obtained. Patients with a family history of AF were screened for mutations in KCNJ2 and KCNE1-5 using automated sequencing. 96 patients with familial atrial fibrillation were enrolled. Eighty-three patients had lone atrial fibrillation and 13 had atrial fibrillation and hypertension. Patients had a mean age of 56 years at enrollment and 46 years at onset of atrial fibrillation. Eighty-one percent of patients had paroxysmal atrial fibrillation at enrollment. Unlike patients with an activating mutation in KCNQ1, the patients had a normal QTc interval with a mean of 412 ± 42 ms. Echocardiography revealed a normal mean ejection fraction of 62.0 ± 7.2 % and mean left atrial dimension of 39.9 ± 7.0 mm. A number of common polymorphisms in KCNJ2 and KCNE1-5 were identified, but no mutations were detected. Mutations in KCNJ2 and KCNE1-5 rarely cause typical atrial fibrillation in a referral clinic population.