Girit Saniye, Senol Ebru, Karatas Özge, Yıldırım Ayşe İnci
Division of Pediatric Pulmonology, Department of Pediatrics, Istanbul Medeniyet University, Faculty of Medicine, Göztepe Training and Research Hospital, Istanbul, Turkey.
Department of Pediatrics. University of Health Sciences Medical School Dr. Lutfi Kırdar Kartal Educational and Research Hospital, Istanbul, Turkey.
Respir Med Case Rep. 2020 Jun 24;30:101137. doi: 10.1016/j.rmcr.2020.101137. eCollection 2020.
Pulmonary arteriovenous malformations (PAVM) are generally congenital lesions caused by abnormal capillary development. Lesions can be in the form of isolated anomaly or as part of autosomal dominantly inherited hereditary hemorrhagic telengiectasia (HHT). HHT is the most common hereditary vascular disease characterized by mocucutaneuos telengiectasia and visceral arteriovenous malformations. PAVMs can be asymptomatic or can present with effort dyspnea, palpitations and fatigue especially in cases with HHT. Herein, we present a 13 year-old girl diagnosed with PAVM with polycythemia, clubbing, cyanosis and radiological features; and had accompanying history of epistaxis in family and telengiectasia in oral mucosa as parts of HHT. She was treated by endovascular embolization.
肺动静脉畸形（PAVM）通常是由毛细血管发育异常引起的先天性病变。病变可以是孤立异常的形式，也可以是常染色体显性遗传的遗传性出血性毛细血管扩张症（HHT）的一部分。HHT是最常见的遗传性血管疾病，其特征为黏膜皮肤毛细血管扩张和内脏动静脉畸形。PAVM可以无症状，也可表现为劳力性呼吸困难、心悸和疲劳，尤其是在患有HHT的病例中。在此，我们报告一名13岁女孩，诊断为患有红细胞增多症、杵状指、发绀和放射学特征的PAVM；并且有家族性鼻出血和口腔黏膜毛细血管扩张的病史，作为HHT的一部分。她接受了血管内栓塞治疗。
