Online ISSN: 2187-2988 Print ISSN: 0911-1794
特定非営利活動法人日本小児循環器学会 Japanese Society of Pediatric Cardiology and Cardiac Surgery
Pediatric Cardiology and Cardiac Surgery 32(3): 244-249 (2016)

症例報告Case Report

肺動静脈瘻を伴う遺伝性毛細血管拡張症の新規遺伝子変異1女児例A Case of Hereditary Hemorrhagic Telangiectasia with a De Novo Mutation in Endoglin

1横浜市立大学附属病院小児循環器科Department of Pediatric Cardiology, Yokohama City University Hospital ◇ Kanagawa, Japan

2国立循環器病研究センター研究所分子生物学部Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute ◇ Osaka, Japan

3国立循環器病研究センター小児循環器科Department of Pediatric Cardiology, National Cardiovascular Center ◇ Osaka, Japan

4神奈川県立こども医療センター循環器内科Department of Cardiology, Kanagawa Children’s Medical Center ◇ Kanagawa, Japan

受付日:2015年12月8日Received: December 8, 2015
受理日:2016年3月31日Accepted: March 31, 2016
発行日:2016年5月1日Published: May 1, 2016


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.

Key words: hereditary hemorrhagic telangiectasia; pulmonary arteriovenous fistula; coil embolization; de novo mutation; endoglin

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