Genetic background of ventricular tachyarrhythmias associated with acute myocardial ischemia

急性心肌缺血相关室性快速心律失常的遗传背景

• 批准号: 23591030
• 负责人: NAKAJIMA Tadashi
• 金额: $ 3.24万
• 依托单位: Gunma University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2011
• 资助国家: 日本
• 起止时间: 2011 至 2013
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-23591030/
• 关键词: 遺伝子多型; 虚血性心疾患; 致死性不整脈; イオンチャネル

We tried to elucidate the genetic background of ventricular tachyarrhythmias (VTAs) associated with acute coronary ischemia in Japanese patients. We analyzed KCNQ1, KCNH2, KCNE1, KCNE2 and SCN5A in four patients with post myocardial infarction/ischemia-associated torsades de pointes (ACS-TdP), and identified KCNQ1 G643S variant in two patients. The allele frequency of this variant is more common in Asian (about 6 %) than other ethnic groups (white: 0 %). However, it was reported to be associated with secondary long QT syndrome. In contrast, KCNH2 K897T variant, which is prevalent in Caucasian, was reported to be identified in 9 out of 13 Caucasian ACS-TdP patients. Moreover, we analyzed above genes in 8 patients who experienced VTAs associated with vasospastic angina, and identified SCN5A R1193Q, SCN5A L1988R/SCN5A H558R, KCNH2 P10S/SCN5A H558R in three patients. Our data suggest that there may be an ethnic-specific genetic background in VTAs associated with acute coronary ischemia.

我们试图阐明日本患者中与急性冠状动脉缺血有关的心室心律失常（VTA）的遗传背景。我们分析了四名心肌梗塞/缺血相关的尖点（ACS-TDP）的四名患者，分析了KCNQ1，KCNH2，KCNE1，KCNE1，KCNE2和SCN5A，并确定了两名患者的KCNQ1 G643S变体。该变体的等位基因频率在亚洲（约6％）中比其他种族更为普遍（白色：0％）。但是，据报道它与继发性QT综合征有关。相比之下，据报道，在高加索人中普遍存在的KCNH2 K897T变体在13名高加索ACS-TDP患者中有9例被鉴定出来。此外，我们分析了8例经历了与血管痉挛性心绞痛相关的VTA的患者中的基因，并确定了三名患者的SCN5A R1193Q，SCN5A L1988R/SCN5A H558R，KCNH2 P10S/SCN5A H558R。我们的数据表明，VTA中可能存在与急性冠状动脉缺血有关的种族特异性遗传背景。

项目成果

Epimyocardium-dominant electrical impairment in a patient with cardiolaminopathy

心肌纤质病患者的心肌外膜主导的电损伤

• DOI: 10.1111/j.1540-8167.2010.01951.x
• 发表时间: 2011
• 期刊: Journal of Cardiovascular Electrophysiology
• 影响因子: 2.7
• 作者: Nakajima T;Kaneko Y;Irie T;Kurabayashi M
• 通讯作者: Kurabayashi M

Idiopathic Ventricular Fibrillation Associated with Complete Right Bundle Branch Block?

特发性心室颤动与完全性右束支传导阻滞相关吗？

• DOI: 10.2169/internalmedicine.53.1704
• 发表时间: 2014
• 期刊: Internal Medicine
• 影响因子: 1.2
• 作者: Manita M;Nakajima T;Kaneko Y;Kurabayashi M.
• 通讯作者: Kurabayashi M.

Identification of CACNA1C Variants Associated with an Inherited Arrhythmia Syndrome in Japanese Patients

日本患者中与遗传性心律失常综合征相关的 CACNA1C 变异的鉴定

• 发表时间: 2013
• 作者: Tadashi Nakajima;Yoshiaki Kaneko;Tadanobu Irie;Takafumi Iijima;Masahiko Kurabayashi
• 通讯作者: Masahiko Kurabayashi

Marked lipomatous hypertrophy of the right ventricular wall : a distinct clinicopathological entity from arrhythmogenic right ventricular cardiomyopathy?

右心室壁明显脂肪瘤性肥大：与致心律失常性右心室心肌病不同的临床病理实体？

• DOI: 10.1016/j.ijcard.2011.11.041
• 发表时间: 2012
• 期刊: Int J Cardiol
• 影响因子: 3.5
• 作者: Nakajima T;Kaneko Y;Fukuda N;Irie T;Iso T;Kurabayashi M.
• 通讯作者: Kurabayashi M.

Clinical and Genetic Characteristics of Japanese Patients with Arrhythmogenic Right Ventricular Cardiomyopathy

日本致心律失常性右室心肌病患者的临床和遗传特征

• 发表时间: 2013
• 作者: Tadashi Nakajima;Seiko Ohno;Yoshiaki Kaneko;Tadanobu Irie;Masaki Ota;Masahiko Kurabayashi
• 通讯作者: Masahiko Kurabayashi