Chang Sung-A, Jang Shin Yi, Ki Chang-Seok, Kang I-Seok, Kim Duk-Kyung
Division of Cardiology, Department of Medicine, Cardiovascular Imaging Center, Cardiac and Vascular Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon-dong, Gangnam-gu, Seoul, 135-710, Republic of Korea.
Heart Vessels. 2011 Mar;26(2):231-4. doi: 10.1007/s00380-010-0079-z. Epub 2010 Dec 4.
Hereditary hemorrhagic telangiectasia (HHT) is a hereditary vascular disease with multiple arterial venous malformations. Pulmonary arterial hypertension is occasionally associated with HHT; however, there is no evidence of targeted therapy for this subgroup of patients. This report describes a 37-year-old woman who presented with dyspnea on exertion. She was finally diagnosed with pulmonary arterial hypertension associated with HHT (HHT2, MIM 600376), and had multiple arterial venous malformations in the lung, liver and pancreas. An oral dual endothelin receptor (ET(A)/ET(B)) antagonist, bosentan, was prescribed, and her symptoms, exercise capacity and laboratory findings improved greatly after treatment. Pulmonary arterial pressure also decreased. Endothelin receptor antagonist is a possible treatment option for pulmonary arterial hypertension associated with HHT.
遗传性出血性毛细血管扩张症（HHT）是一种伴有多处动静脉畸形的遗传性血管疾病。肺动脉高压偶尔与HHT相关；然而，尚无针对该亚组患者的靶向治疗证据。本报告描述了一名37岁的女性，她表现为劳力性呼吸困难。她最终被诊断为与HHT相关的肺动脉高压（HHT2，MIM 600376），并且在肺、肝和胰腺中有多处动静脉畸形。给予口服双重内皮素受体（ET(A)/ET(B)）拮抗剂波生坦治疗，治疗后她的症状、运动能力和实验室检查结果有显著改善。肺动脉压也有所下降。内皮素受体拮抗剂可能是治疗与HHT相关的肺动脉高压的一种选择。
