Yu Jinmei, Zhou Lin, Yang Chengying, Kou Xingyuan, Li Le, Fan Xinrong, Liu Xing
Department of Cardiovascular Medicine, Southwest Medical University, Luzhou, Sichuan, China.
Department of Imaging, Southwest Medical University, Luzhou, Sichuan, China.
Front Cardiovasc Med. 2025 Apr 9;12:1517117. doi: 10.3389/fcvm.2025.1517117. eCollection 2025.
The principal clinical manifestation of thrombophilia is venous thromboembolism, which is also markedly linked to arterial thrombosis, including myocardial infarction. Nevertheless, patients presenting with an early-onset myocardial infarction are seldom screened for thrombophilic genes, resulting in delayed diagnosis and an unfavourable prognosis. This report presents the case of a young man who suffered an acute myocardial infarction as a result of thrombophilia. The patient had a history of deep vein thrombosis and was genetically tested to carry two thrombophilia susceptibility alleles at the PAI-1 (4G/5G) and MTHFR (C > T) loci. This ultimately resulted in severe coronary artery occlusion, myocardial scarring and frequent episodes of ventricular tachycardia, which had a significant impact on the patient's quality of life. The objective of this report was to enhance clinicians' awareness of embolism susceptibility. It is recommended that young and middle-aged patients with severe coronary artery stenosis undergo screening for embolism.
血栓形成倾向的主要临床表现是静脉血栓栓塞，它也与动脉血栓形成密切相关，包括心肌梗死。然而，早发性心肌梗死患者很少接受血栓形成倾向基因筛查，导致诊断延迟和预后不良。本报告介绍了一名因血栓形成倾向而发生急性心肌梗死的年轻男子的病例。该患者有深静脉血栓形成病史，基因检测显示在PAI-1（4G/5G）和MTHFR（C>T）位点携带两个血栓形成倾向易感等位基因。这最终导致严重的冠状动脉闭塞、心肌瘢痕形成和频繁的室性心动过速发作，对患者的生活质量产生了重大影响。本报告的目的是提高临床医生对栓塞易感性的认识。建议对严重冠状动脉狭窄的中青年患者进行栓塞筛查。
