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-...

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Autores principales: Yokoo, Keiki, Yamada, Gen, Chiba, Hirofumi, Ishikawa, Aki, Morisaki, Hiroko, Saijo, Hiroshi, Kudoh, Sayaka, Kitamura, Yasuo, Hirokawa, Naoki, Miyajima, Masahiro, Watanabe, Atsushi, Takahashi, Hiroki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6068337/
https://www.ncbi.nlm.nih.gov/pubmed/30073140
http://dx.doi.org/10.1016/j.rmcr.2018.07.001
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author Yokoo, Keiki
Yamada, Gen
Chiba, Hirofumi
Ishikawa, Aki
Morisaki, Hiroko
Saijo, Hiroshi
Kudoh, Sayaka
Kitamura, Yasuo
Hirokawa, Naoki
Miyajima, Masahiro
Watanabe, Atsushi
Takahashi, Hiroki
author_facet Yokoo, Keiki
Yamada, Gen
Chiba, Hirofumi
Ishikawa, Aki
Morisaki, Hiroko
Saijo, Hiroshi
Kudoh, Sayaka
Kitamura, Yasuo
Hirokawa, Naoki
Miyajima, Masahiro
Watanabe, Atsushi
Takahashi, Hiroki
author_sort Yokoo, Keiki
collection PubMed
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.
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spelling pubmed-60683372018-08-02 A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations Yokoo, Keiki Yamada, Gen Chiba, Hirofumi Ishikawa, Aki Morisaki, Hiroko Saijo, Hiroshi Kudoh, Sayaka Kitamura, Yasuo Hirokawa, Naoki Miyajima, Masahiro Watanabe, Atsushi Takahashi, Hiroki Respir Med Case Rep Case Report 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. Elsevier 2018-07-02 /pmc/articles/PMC6068337/ /pubmed/30073140 http://dx.doi.org/10.1016/j.rmcr.2018.07.001 Text en © 2018 The Authors. Published by Elsevier Ltd. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Yokoo, Keiki
Yamada, Gen
Chiba, Hirofumi
Ishikawa, Aki
Morisaki, Hiroko
Saijo, Hiroshi
Kudoh, Sayaka
Kitamura, Yasuo
Hirokawa, Naoki
Miyajima, Masahiro
Watanabe, Atsushi
Takahashi, Hiroki
A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations
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
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6068337/
https://www.ncbi.nlm.nih.gov/pubmed/30073140
http://dx.doi.org/10.1016/j.rmcr.2018.07.001
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