日本小児循環器学会雑誌 Pediatric Cardiology and Cardiac Surgery

We report a case of a 13-year-old girl with multiple pulmonary arteriovenous malformations (PAVM) associated with hereditary hemorrhagic telangiectasia (HHT) type 1. The feeding artery diameter of all PAVMs was less than 3 mm, but the patient presented with hypoxemia. Therefore, we performed coil embolization for the large lesion until oxygenation was improved. A feeding artery of PAVM that exceeds 3 mm in diameter should be treated because it has an increased risk of serious cerebral complications. With progress of tools such as detachable microcoils and vascular plugs, we need to examine adaptation of treatment of PAVM with feeders smaller than 3 mm in every case. HHT is an autosomal-dominant disease caused by mutations in five to six genes. HHT may lead to early diagnosis of PAVM in cases with a family history by conducting a screening test. In particular, HHT type 1 has a high incidence of the complication of multiple PAVMs. Careful follow-up and prevention of complications by appropriate treatment intervention are important.