Arano Takahiro, Imamoto Takuro, Suda Rika, Kasai Hajime, Sugiura Toshihiko, Shigeta Ayako, Yamamoto Keiko, Nagata Jun, Sakao Seiichiro, Tanabe Nobuhiro, Tatsumi Koichiro
Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, Japan.
Health Professional Development Center, Chiba University Hospital, Chiba, Japan.
Respir Med Case Rep. 2021 Jan 19;32:101352. doi: 10.1016/j.rmcr.2021.101352. eCollection 2021.
Heritable pulmonary arterial hypertension (HPAH) is a type of familial pulmonary arterial hypertension, while pulmonary arteriovenous malformations (PAVMs) are abnormal communications between pulmonary arteries and veins that occur frequently in patients with hereditary hemorrhagic telangiectasia (HHT). A 21-year-old woman on continuing medication for HPAH was hospitalized. She had been diagnosed with HPAH at age 4 years and had been receiving epoprostenol infusion from age of 9 years. Although lung perfusion scintigraphy showed a shunt fraction of 18.9% at age of 19 years, the cause of the shunt was unclear. At the time of the present hospitalization, enhanced computed tomography (CT) of the chest and four-dimensional reconstructed images revealed multiple abnormal communications between the peripheral pulmonary arteries and veins. Furthermore, right heart catheterization revealed an elevated mean pulmonary arterial pressure. Wedged angiography of the pulmonary artery of the right lower lobe revealed several PAVMs. Multiple PAVMs and suspected HHT with HPAH was diagnosed. The possibility of PAVMs should be considered even in patients with HPAH. Moreover, evaluation of the shunt fraction by lung perfusion scintigraphy and morphological examination of PAVM by contrast-enhanced CT may facilitate PAVM detection in patients with HPAH.
遗传性肺动脉高压（HPAH）是家族性肺动脉高压的一种类型，而肺动静脉畸形（PAVM）是肺动脉和静脉之间的异常交通，常见于遗传性出血性毛细血管扩张症（HHT）患者。一名正在接受HPAH持续治疗的21岁女性住院。她4岁时被诊断为HPAH，9岁起接受依前列醇输注。尽管19岁时肺灌注闪烁扫描显示分流分数为18.9%，但分流原因不明。本次住院时，胸部增强计算机断层扫描（CT）和四维重建图像显示外周肺动脉和静脉之间存在多处异常交通。此外，右心导管检查显示平均肺动脉压升高。右下叶肺动脉楔入血管造影显示多处PAVM。诊断为多发性PAVM并疑似合并HHT和HPAH。即使是HPAH患者，也应考虑PAVM的可能性。此外，通过肺灌注闪烁扫描评估分流分数以及通过对比增强CT对PAVM进行形态学检查，可能有助于检测HPAH患者中的PAVM。
