A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations
We present a case series of four siblings with hereditary hemorrhagic telangiectasia (HHT) and pulmonary arteriovenous malformations (PAVM). The patients' mother has HHT. Case 1: A 22-year-old man developed dyspnea and epistaxis. CT revealed a large PAVM, treated by segmentectomy. Case 2: A 27-...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2018-01-01
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| Series: | Respiratory Medicine Case Reports |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2213007118301266 |
| _version_ | 1828825732283891712 |
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| author | Keiki Yokoo Gen Yamada Hirofumi Chiba Aki Ishikawa Hiroko Morisaki Hiroshi Saijo Sayaka Kudoh Yasuo Kitamura Naoki Hirokawa Masahiro Miyajima Atsushi Watanabe Hiroki Takahashi |
| author_facet | Keiki Yokoo Gen Yamada Hirofumi Chiba Aki Ishikawa Hiroko Morisaki Hiroshi Saijo Sayaka Kudoh Yasuo Kitamura Naoki Hirokawa Masahiro Miyajima Atsushi Watanabe Hiroki Takahashi |
| author_sort | Keiki Yokoo |
| collection | DOAJ |
| description | We present a case series of four siblings with hereditary hemorrhagic telangiectasia (HHT) and pulmonary arteriovenous malformations (PAVM). The patients' mother has HHT. Case 1: A 22-year-old man developed dyspnea and epistaxis. CT revealed a large PAVM, treated by segmentectomy. Case 2: A 27-year-old woman developed epistaxis and dyspnea. CT revealed three PAVMs, treated by partial resection. Case 3: A 20-year-old woman developed dyspnea. CT revealed multiple PAVMs, treated with endovascular occlusion of the largest one. Case 4: A 12-year-old woman developed epistaxis. CT revealed multiple PAVMs, observed without treatment. Genetic testing identified a new mutation, ENG c.1517T>C (p.Leu506Pro), in all patients and their mother. We suspect that HHT in these patients may be associated with this ENG mutation. Keywords: Hereditary hemorrhagic telangiectasia, Osler-Weber-Rendu disease, Pulmonary arteriovenous malformation |
| first_indexed | 2024-12-12T14:24:30Z |
| format | Article |
| id | doaj.art-dbcfd87c9c1b4100acf5a9f84b7adbda |
| institution | Directory Open Access Journal |
| issn | 2213-0071 |
| language | English |
| last_indexed | 2024-12-12T14:24:30Z |
| publishDate | 2018-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Respiratory Medicine Case Reports |
| spelling | doaj.art-dbcfd87c9c1b4100acf5a9f84b7adbda2022-12-22T00:21:43ZengElsevierRespiratory Medicine Case Reports2213-00712018-01-01257377A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformationsKeiki Yokoo0Gen Yamada1Hirofumi Chiba2Aki Ishikawa3Hiroko Morisaki4Hiroshi Saijo5Sayaka Kudoh6Yasuo Kitamura7Naoki Hirokawa8Masahiro Miyajima9Atsushi Watanabe10Hiroki Takahashi11Department of Respiratory Medicine, Teine Keijinkai Hospital, Japan; Corresponding author. Department of Respiratory Medicine, Teine Keijinkai Hospital, Teine-ku, Maeda 1-12, Sapporo 006-0811, Japan. Tel.: +81 11 681 8111.Department of Respiratory Medicine, Teine Keijinkai Hospital, JapanDepartment of Respiratory Medicine and Allergology, Sapporo Medical University, JapanDepartment of Medical Genetics, Sapporo Medical University, JapanDepartment of Medical Genetics, Sakakibara Heart Institute, Japan (Formerly, Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute), JapanDepartment of Respiratory Medicine and Allergology, Sapporo Medical University, JapanDepartment of Respiratory Medicine, Kushiro City General Hospital, JapanDepartment of Respiratory Medicine, Kushiro City General Hospital, JapanDepartment of Radiology, Sapporo Medical University, JapanDepartment of Respiratory Surgery, Sapporo Medical University, JapanDepartment of Respiratory Surgery, Sapporo Medical University, JapanDepartment of Respiratory Medicine and Allergology, Sapporo Medical University, JapanWe present a case series of four siblings with hereditary hemorrhagic telangiectasia (HHT) and pulmonary arteriovenous malformations (PAVM). The patients' mother has HHT. Case 1: A 22-year-old man developed dyspnea and epistaxis. CT revealed a large PAVM, treated by segmentectomy. Case 2: A 27-year-old woman developed epistaxis and dyspnea. CT revealed three PAVMs, treated by partial resection. Case 3: A 20-year-old woman developed dyspnea. CT revealed multiple PAVMs, treated with endovascular occlusion of the largest one. Case 4: A 12-year-old woman developed epistaxis. CT revealed multiple PAVMs, observed without treatment. Genetic testing identified a new mutation, ENG c.1517T>C (p.Leu506Pro), in all patients and their mother. We suspect that HHT in these patients may be associated with this ENG mutation. Keywords: Hereditary hemorrhagic telangiectasia, Osler-Weber-Rendu disease, Pulmonary arteriovenous malformationhttp://www.sciencedirect.com/science/article/pii/S2213007118301266 |
| spellingShingle | Keiki Yokoo Gen Yamada Hirofumi Chiba Aki Ishikawa Hiroko Morisaki Hiroshi Saijo Sayaka Kudoh Yasuo Kitamura Naoki Hirokawa Masahiro Miyajima Atsushi Watanabe Hiroki Takahashi A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations Respiratory Medicine Case Reports |
| title | A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations |
| title_full | A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations |
| title_fullStr | A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations |
| title_full_unstemmed | A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations |
| title_short | A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations |
| title_sort | new eng mutation in a japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations |
| url | http://www.sciencedirect.com/science/article/pii/S2213007118301266 |
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