Genetic background of ventricular tachyarrhythmias associated with acute myocardial ischemia

我们试图阐明与日本急性冠状动脉缺血相关的室性心动过速（VTAs）的遗传背景。我们分析了4例心肌梗死/缺血相关性椎体扭转（ACS-TdP）患者的KCNQ1、KCNH2、KCNE1、KCNE2和SCN5A，并在2例患者中发现了KCNQ1 G643S变异。这种变异的等位基因频率在亚洲人（约6%）比其他种族（白人：0%）更常见。然而，据报道它与继发性长QT综合征有关。相比之下，在高加索人中普遍存在的KCNH2 K897T变异，据报道在13例高加索ACS-TdP患者中有9例被发现。此外，我们分析了8例血管痉挛性心绞痛相关VTAs患者的上述基因，并在3例患者中鉴定出SCN5A R1193Q、SCN5A L1988R/SCN5A H558R、KCNH2 P10S/SCN5A H558R。我们的数据表明，与急性冠状动脉缺血相关的VTAs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.