Genetic background of ventricular tachyarrhythmias associated with acute myocardial ischemia

我们试图阐明日本患者中与急性冠状动脉缺血相关的室性快速性心律失常（VTA）的遗传背景。我们分析了4例心肌梗死后/缺血相关尖端扭转型室性心动过速（ACS-TdP）患者的KCNQ 1、KCNH 2、KCNE 1、KCNE 2和SCN 5A，并在2例患者中鉴定了KCNQ 1 G643 S变异体。这种变异的等位基因频率在亚洲人中（约6%）比其他种族群体（白色：0%）更常见。然而，据报告与继发性长QT综合征相关。相比之下，据报告，在13例高加索ACS-TdP患者中有9例发现了在高加索人中普遍存在的KCNH 2 K897 T变体。此外，我们还对8例VTA伴血管痉挛性心绞痛患者的上述基因进行了分析，并在3例患者中鉴定出SCN 5A R1193 Q、SCN 5A L1988 R/SCN 5A H558 R、KCNH 2 P10 S/SCN 5A H558 R。我们的数据表明，与急性冠状动脉缺血相关的VTA可能存在种族特异性遗传背景。

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.