Department of Cardiology, Affiliated Hospital of Chengde Medical College, 36 Nanyingzi Street, Chengde, 067000, Hebei, China.
Outpatient Department of Affiliated Hospital of Chengde Medical College, Chengde, 067000, China.
J Cardiothorac Surg. 2024 Oct 16;19(1):607. doi: 10.1186/s13019-024-03106-x.
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by epistaxis, gastrointestinal bleeding, iron deficiency anemia, and arteriovenous malformations (AVMs) affecting the lungs, liver, and brain. Owing to its rarity and diagnostic challenges, early identification is often elusive. Underdiagnosis and prolonged diagnostic delays are prevalent. Here, we present the case of a 63-year-old male who presented with chest pain and was diagnosed with an ST-elevation myocardial infarction (STEMI). Subsequently, he underwent placement of a drug-eluting stent in the right coronary artery (RCA). However, recurrent postoperative epistaxis resulted in severe anemia, prompting further investigation leading to the diagnosis of hereditary hemorrhagic telangiectasia through comprehensive medical history and genetic testing. Future studies are warranted to evaluate reperfusion strategies in HHT patients presenting with myocardial infarction.
遗传性出血性毛细血管扩张症（HHT）是一种常染色体显性遗传疾病，其特征为鼻出血、胃肠道出血、缺铁性贫血和肺部、肝脏和脑部的动静脉畸形（AVM）。由于其罕见性和诊断挑战，早期识别往往难以实现。漏诊和诊断延迟普遍存在。在这里，我们介绍了一位 63 岁男性的病例，他因胸痛就诊，被诊断为 ST 段抬高型心肌梗死（STEMI）。随后，他在右冠状动脉（RCA）中植入了药物洗脱支架。然而，术后反复鼻出血导致严重贫血，促使进一步检查，通过全面的病史和基因检测诊断为遗传性出血性毛细血管扩张症。有必要进行未来的研究来评估患有心肌梗死的 HHT 患者的再灌注策略。
