Division of Neurology, Hospital Naval Marcílio Dias, Rio de Janeiro, Rio de Janeiro 20725-090, Brazil.
Neurosonology Laboratory, Cerebrovascular Disease Unit, Federal University of Paraná, Curitiba, Paraná 80060-000, Brazil.
Mil Med. 2023 Mar 20;188(3-4):e885-e889. doi: 10.1093/milmed/usab192.
We report two cases of Brazilian patients (a 22-year-old male and a 48-year-old male) with ischemic stroke, whose arterial vascular study and echocardiographic investigation did not reveal any steno-occlusive arterial disease or typical cardioembolic finding, such as atrial fibrillation or myocardial dysfunction. A transcranial Doppler ultrasound and a transesophageal echocardiogram showed a patent foramen ovale (PFO), and the laboratory screening for coagulation abnormalities showed heterozygosity for MTHFR C677T and A1298C in one of the patients and heterozygosity for factor V Leiden gene mutations in the other patient. The significance of the association of PFO with Methylenetetrahydrofolate (MTHFR) C677T and A1298C variants or factor V Leiden mutation is discussed as a possible cause of ischemic stroke through paradoxical embolism from a venous source. There is a high prevalence of these two mentioned conditions in the general population, so we discuss two cases in which indication for anticoagulant therapy or percutaneous closure of PFO prevails.
我们报告了两例巴西患者（一名 22 岁男性和一名 48 岁男性）发生缺血性脑卒中，其动脉血管研究和超声心动图检查未显示任何狭窄性或闭塞性动脉疾病或典型的心源性栓塞发现，如心房颤动或心肌功能障碍。经颅多普勒超声和经食管超声心动图显示卵圆孔未闭（PFO），凝血异常的实验室筛查显示其中 1 例患者存在亚甲基四氢叶酸还原酶（MTHFR）C677T 和 A1298C 杂合性，另 1 例患者存在因子 V 莱顿基因突变杂合性。讨论了 PFO 与 Methylenetetrahydrofolate（MTHFR）C677T 和 A1298C 变体或因子 V 莱顿突变之间的关联作为通过来自静脉源的反常栓塞导致缺血性脑卒中的可能原因的意义。这两种情况在普通人群中普遍存在，因此我们讨论了两种情况下抗凝治疗或经皮 PFO 封堵的适应证。
