Prothrombotic mutations as risk factors for cryptogenic ischemic cerebrovascular events in young subjects with patent foramen ovale
Prothrombotic mutations as risk factors for cryptogenic ischemic cerebrovascular events in young subjects with patent foramen ovale
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DOI：
10.1161/strokeaha.106.480863
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发表时间：
2007-07-01
期刊：
影响因子：
8.3
通讯作者：
Andreassi, Maria Grazia
中科院分区：
文献类型：
--
作者：
Botto, Nicoletta;Spadoni, Isabella;Andreassi, Maria Grazia
背景与目的-卵圆孔未闭（PFO）已被确定为脑血管缺血的潜在危险因素。促凝剂突变可能增加风险并影响二级预防治疗的选择。我们评估了两种最常见的血栓栓塞遗传危险因素，Leiden因子V （G1691A）和凝血酶原G20210A，在经皮经导管关闭PFO的年轻PFO患者中。方法：将97例55岁前首次脑血管事件的患者（50例男性，平均+/- SD年龄40.9 +/- 10.0岁）和160例年龄匹配的对照组（69例男性，平均+/- SD年龄40.4 +/- 10.5岁）纳入研究。采用多重等位基因特异性聚合酶链反应法检测因子V Leiden和凝血酶原G20210A突变。结果- PFO患者组携带至少1种血栓形成前基因型的患病率显著高于对照组（10.3% vs 2.5%; chi(2)=7.2， P=0.008）。2例患者（2.1%）与1例对照组（0.6%）、8例（8.2%）与3例对照组（1.9%）分别为因子V Leiden和凝血酶原G20210A突变携带者。在校正其他血管危险因素后，vleiden因子或凝血酶原G20210A与PFO联合使用可使年轻患者脑缺血风险增加4.7倍（95% CI=1.4 ~ 16.1； P=0.008）。结论：我们的研究结果表明，血栓前突变是年轻PFO患者脑缺血的重要危险因素。筛查血栓突变应考虑在年轻患者的pfo相关的缺血性事件。
Background and Purpose - Patent foramen ovale (PFO) has been identified as a potential risk factor for cerebrovascular ischemia. Procoagulant mutations may increase the risk and impact the choice of appropriate therapy for secondary prevention. We evaluated the prevalence of the 2 most common genetic risk factors for thromboembolism, factor V Leiden (G1691A) and prothrombin G20210A, in young PFO patients who were referred for percutaneous transcatheter closure of their PFO.Methods - Ninety-seven patients (50 men; mean +/- SD age, 40.9 +/- 10.0 years) with first-ever cerebrovascular events before the age of 55 years and 160 age-matched control subjects (69 men; mean +/- SD age, 40.4 +/- 10.5 years) were recruited into the study. Factor V Leiden and prothrombin G20210A mutations were detected by using a multiplex allele-specific polymerase chain reaction assay.Results - The prevalence of subjects carrying at least 1 prothrombotic genotype was significantly higher in the group of PFO patients than in the group of controls (10.3% vs 2.5%; chi(2)=7.2, P=0.008). Two patients (2.1%) versus 1 control subject (0.6%) and 8 cases (8.2%) versus 3 controls (1.9%) were carriers for factor V Leiden and prothrombin G20210A mutations, respectively. After adjustment for other vascular risk factors, the combination of either factor V Leiden or prothrombin G20210A and PFO was associated with a 4.7-fold (95% CI=1.4 to 16.1; P=0.008) increased risk of cerebral ischemia in young patients.Conclusions - Our results indicate that prothrombotic mutations are important risk factors for cerebral ischemia in young patients with PFO. Screening for thrombotic mutations should be considered in young patients with PFO-related ischemic events.