Ferreira Roberto Muniz, Villela Paolo Blanco, Boechat Jose Ary, Mansur Filho João
Department of Cardiology, Samaritano Hospital, Rio de Janeiro, RJ, Brasil.
Federal University of Rio de Janeiro, Edson Saad Heart Institute, Rio de Janeiro, RJ, Brasil.
Turk Kardiyol Dern Ars. 2019 Mar;47(2):148-152. doi: 10.5543/tkda.2018.39939.
The prevalence of coronary artery disease in young adults (<45 years of age) has been increasing steadily in recent decades. Although traditional cardiovascular risk factors can be identified in most cases, newly recognized associations are becoming progressively more relevant. The relationship between the factor V Leiden mutation and atherosclerosis has been a matter of debate due to conflicting data presented in previous studies. Presently described is the case of a previously asymptomatic 37-year-old woman with a significant family history of coronary artery disease who developed rapidly progressive angina within 1 month. After a positive non-invasive evaluation, coronary angiography demonstrated a significant obstruction in the proximal left anterior descending artery. Optical coherence tomography revealed a highly vulnerable lipid-rich atherosclerotic plaque. Coronary angioplasty followed by the implantation of 1 drug-eluting stent was successfully performed. A subsequent thrombophilia screening identified a heterozygous factor V R506Q mutation (factor V Leiden). Since there was no history of thromboembolic events, the patient was discharged using only aspirin, clopidogrel, atorvastatin, and atenolol. Further studies are needed to define the most appropriate management of young patients who manifest clinically significant atherosclerotic disease in association with hereditary thrombophilia.
近几十年来，年轻成年人（<45岁）中冠状动脉疾病的患病率一直在稳步上升。虽然在大多数情况下可以识别出传统的心血管危险因素，但新发现的关联正变得越来越重要。由于先前研究中呈现的数据相互矛盾，因子V莱顿突变与动脉粥样硬化之间的关系一直存在争议。本文介绍了一名37岁的无症状女性病例，该女性有显著的冠状动脉疾病家族史，在1个月内出现了快速进展的心绞痛。经过无创评估呈阳性后，冠状动脉造影显示左前降支近端有严重阻塞。光学相干断层扫描显示有一个高度易损的富含脂质的动脉粥样硬化斑块。成功进行了冠状动脉成形术并植入了1枚药物洗脱支架。随后的血栓形成倾向筛查发现了杂合子因子V R506Q突变（因子V莱顿）。由于没有血栓栓塞事件史，患者出院时仅使用阿司匹林、氯吡格雷、阿托伐他汀和阿替洛尔。需要进一步研究来确定对患有与遗传性血栓形成倾向相关的临床显著动脉粥样硬化疾病的年轻患者的最合适管理方法。
