Department of Cardiology, Gifu University Graduate School of Medicine, 1-1 Yanagido, Gifu, 501-1194, Japan.
Division of Clinical Laboratory, Gifu University Hospital, Gifu, Japan.
J Med Case Rep. 2022 May 29;16(1):211. doi: 10.1186/s13256-022-03427-2.
Hereditary hemorrhagic telangiectasia, also known as Osler-Weber-Rendu disease, induces arteriovenous malformations in visceral organs. Arteriovenous malformations increase the risk of severe infections and are a common complication associated with hemorrhagic telangiectasia. However, cases of endocarditis associated with hemorrhagic telangiectasia are rarely reported. Although hemorrhagic telangiectasia causes erythematous macules on the extremities, these macules are usually painless. We encountered a rare case of infective endocarditis in a patient with Osler-Weber-Rendu disease.
A 52-year-old Japanese woman who was diagnosed with hemorrhagic telangiectasia 5 years prior presented to our hospital with fever and muscular pain. She had erythematous nodules and tenderness on the finger, heel, and toe, suggestive of Osler's nodes. A physical examination revealed tachycardia with a 3/6 pansystolic murmur. A transesophageal echocardiogram showed vegetations along the atrial side of the mitral valve and mild mitral regurgitation because of prolapse of the anterior commissure. Methicillin-sensitive Staphylococcus aureus was identified in the blood cultures. Detection of distinctive skin lesions, so-called Osler's nodes, was the symptomatic key to early diagnosis, and the patient was treated without surgery. She was discharged with negative blood cultures after a 6-week intravenous antibiotic administration.
Our report highlights the importance of considering the risk of extracerebral infections including endocarditis in hemorrhagic telangiectasia. This rare case effectively demonstrates the importance of proper diagnosis of skin lesions.
遗传性出血性毛细血管扩张症,又称 Osler-Weber-Rendu 病,可导致内脏器官出现动静脉畸形。动静脉畸形会增加严重感染的风险,是出血性毛细血管扩张症的常见并发症。然而,与出血性毛细血管扩张症相关的心内膜炎病例很少见报道。尽管出血性毛细血管扩张症可导致四肢出现红斑性斑点,但这些斑点通常无痛。我们遇到一例 Osler-Weber-Rendu 病患者罕见的感染性心内膜炎病例。
一名 52 岁日本女性,5 年前被诊断为出血性毛细血管扩张症,因发热和肌肉疼痛就诊于我院。她的手指、脚跟和脚趾有红斑性结节和触痛,提示 Osler 结节。体格检查显示心动过速,有 3/6 全收缩期杂音。经食管超声心动图显示二尖瓣心房侧有赘生物,前联合脱垂导致轻度二尖瓣反流。血培养鉴定出耐甲氧西林金黄色葡萄球菌。发现特征性皮肤病变,即所谓的 Osler 结节,是早期诊断的症状关键,且患者未经手术治疗。在接受 6 周静脉抗生素治疗后,患者血培养转为阴性后出院。
我们的报告强调了在出血性毛细血管扩张症患者中考虑包括心内膜炎在内的脑外感染风险的重要性。该罕见病例有效证明了正确诊断皮肤病变的重要性。