急性心肌梗死合并双下肢动脉栓塞1例伴遗传易感性分析  

Acute myocardial infarction and arterial embolism of both lower extremities:report of a case and analysis of genetic predisposition

作　　者：石川[1] 金玮[1] 王玲洁[1] 璩斌[2] 张凤如[1] 

机构地区：[1]上海交通大学医学院附属瑞金医院心内科,上海200025 [2]上海交通大学医学院附属瑞金医院检验科,上海200025

出　　处：《内科理论与实践》2009年第3期200-204,共5页Journal of Internal Medicine Concepts & Practice

摘　　要：目的:探讨1例急性心肌梗死合并双下肢动脉栓塞的临床特征,并分析其遗传易感性。方法:分析1例急性心肌梗死合并双下肢动脉栓塞患者的临床表现,并采用PCR-直接测序法探究其血栓遗传倾向。结果:该患者为75岁男性,临床表现和影像学诊断均支持急性心肌梗死后并发的双下肢动脉栓塞,经溶栓、抗凝、抗血小板聚集、稳定斑块等治疗后病情好转。遗传易感性分析发现,该患者存在高同型半胱氨酸血症和亚甲基四氢叶酸还原酶(MTHFR)基因C677T杂合性点突变,但未发现活化蛋白C(APC)抵抗、凝血因子Ⅴ(FⅤ)基因Leiden突变及凝血酶原(FⅡ)基因G20210A突变。结论:动脉栓塞性疾病不仅与获得性病因有关,还与遗传因素有关,易感基因筛查有助于判断血栓栓塞遗传倾向。Objective To report a case of acute myocardial infarction and arterial embolism of both lower extremities, determined by investigating the clinical features and the possible genetic predisposition. Methods The clinical presentations were studied and the genetic predisposition was investigated by PCR-sequeneing. Results The patient was a 75-year-old man whose clinical features and diagnostic imaging results supported the diagnosis of acute myocardial infarction with arterial embolism of both lower extremities. After comprehensive treatment with thrombolysis, anticoagulation, antiplatelet and plaque stablization, the patient＇s condition turned better. Further analyzing the genetic predisposition, we found hyperhomocysteinemia and C677T heterozygotic point mutation of methylene tetrahydrofolate reductase （MTHFR） gene. But factor Ⅴ （F Ⅴ） Leiden gene mutation, FⅡ G20210A gene mutation and activated protein C resistance（APCR） were not found. Conclusions Arterial embolism is related not only with acquired disease but also with hereditary factor. Gene screening is helpful for judging whether the patient has genetic predisposition of arterial embolism or not.

关 键 词：急性心肌梗死 下肢动脉栓塞 遗传易感性 

分 类 号：R542.22[医药卫生—心血管疾病] R543.5[医药卫生—内科学]