A Case of Hereditary Hemorrhagic Telangiectasia with a De Novo Mutation in Endoglin

Abstract

We report a case of a 12-year-old girl who had experienced numerous prior episodes of epistaxis since childhood. Her mother and maternal grandfather also had had similar episodes. She had experienced dyspnea on exertion since the age of nine. She was admitted to our hospital with polycythemia and exhibited a continuous murmur on the back left side. Chest X-ray showed a nodular shadow in the lower left lung field. Contrast-enhanced computed tomography (CT) scan of the chest revealed nodules with blood vessels in the left S1 and S9 segments. As the diagnostic criteria for hereditary hemorrhagic telangiectasia (HHT) were satisfied, the patient was diagnosed as having a pulmonary arteriovenous fistula (PAVF) with HHT. Transcatheter embolization was indicated for the PAVF in the left S9 segment. Coil embolization was performed on the arteries feeding the PAVF. After coil embolization, the PAVF disappeared and the patient’s dyspnea on exertion alleviated. We performed genetic testing on her and her mother, and a de novo mutation IVS2-1G＞C (c.220-1G＞C) was found in endoglin (ENG) in both. We suggested that the mutation was a possible cause of HHT. Further studies are needed to demonstrate the association between the gene mutation and HHT.