Uçar Fahri, Celik Sükrü, Ovali Ercüment, Karti S Sami, Pakdemir Alper, Yilmaz Mustafa, Onder Ekin
KTU Faculty of Medicine, Department of Medical Biology and Genetics, Trabzon, Turkey.
Acta Cardiol. 2004 Feb;59(1):33-9. doi: 10.2143/AC.59.1.2005156.
Within the last few years a number of thrombophilic mutations have been identified. Pre-symptomatic testing for these established genetic risk factors identifies individuals predisposed to a disease and often allows to select suitable prophylactic interventions in time. We investigated whether or not the prothrombin G20210A allele, the factor V Leiden G1691A, and MTHFR C677T allele are risk factors for left ventricular thrombus (LV) in patients with myocardial infarction (AMI) or not.
We analysed clinical, echocardiographic and biochemical data in 183 consecutive patients (aged 58 +/- 12 years; 34 women) with a first anterior acute myocardial infarction. Two-dimensional echocardiographic examination was performed on days 1, 3, 7, 15, and 30. LV thrombi were detected in 42 (23%) of the 183 patients with acute myocardial infarction. We have used multiplex assays based on PCR and DNA hybridization in microtitre plates for the simultaneous analysis of three mutations (FV Leiden G1691A, prothrombin G20210A, and MTHFR C677T). No significant differences in allele frequencies of FV Leiden G1691A (9.5% vs. 8.5%, p = 0.75), prothrombin G20210A (9.5% vs 7.1%, p = 0.74) and MTHFR C677T (47.6% vs. 50.3%, p = 0.74) were found in patients with LV thrombus when compared with those without LV thrombus. No significant differences in haemostatic factor levels were found in patients with LV thrombus when compared with those without LV thrombus.
FV Leiden, prothrombin 20210 variant, and MTHFR mutation are no risk factors for left ventricular thrombus in patients with myocardial infarction.The presence of multiple mutations did not influence the development and outcome of LV thrombus in patients with myocardial infarction
在过去几年中，已鉴定出一些血栓形成倾向突变。对这些已确定的遗传风险因素进行症状前检测，可识别易患某种疾病的个体，并常常能够及时选择合适的预防性干预措施。我们研究了凝血酶原G20210A等位基因、因子V莱顿G1691A和亚甲基四氢叶酸还原酶C677T等位基因是否为心肌梗死（AMI）患者左心室血栓（LV）的风险因素。
我们分析了183例连续的首次前壁急性心肌梗死患者（年龄58±12岁；34例女性）的临床、超声心动图和生化数据。在第1、3、7、15和30天进行二维超声心动图检查。183例急性心肌梗死患者中有42例（23%）检测到左心室血栓。我们使用基于聚合酶链反应（PCR）和微量滴定板中DNA杂交的多重检测方法，同时分析三种突变（因子V莱顿G1691A、凝血酶原G20210A和亚甲基四氢叶酸还原酶C677T）。与无左心室血栓的患者相比，左心室血栓患者中因子V莱顿G1691A（9.5%对8.5%，p = 0.75）、凝血酶原G20210A（9.5%对7.1%，p = 0.74）和亚甲基四氢叶酸还原酶C677T（47.6%对50.3%，p = 0.74）的等位基因频率无显著差异。与无左心室血栓的患者相比，左心室血栓患者的止血因子水平无显著差异。
因子V莱顿、凝血酶原20210变体和亚甲基四氢叶酸还原酶突变不是心肌梗死患者左心室血栓的风险因素。多种突变的存在并未影响心肌梗死患者左心室血栓的发生发展及预后。
