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Vascular Ehlers-Danlos Syndrome with a Novel Missense Mutation in COL3A1: A Man in His 50s with Aortic Dissection after Interventional Treatment for Hemothorax as the First Manifestation
Type III collagen is the major protein in the walls of blood vessels and hollow organs; it is decreased in patients with vascular Ehlers-Danlos syndrome (EDS). A 52-year-old man was admitted for severe back pain, and right hemothorax was suspected by chest computed tomography. Immediately after embo...
| Autores principales: | , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Japanese Society of Internal Medicine
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6928492/ https://www.ncbi.nlm.nih.gov/pubmed/31391389 http://dx.doi.org/10.2169/internalmedicine.2983-19 |
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| author | Sakai, Kosuke Toda, Maiko Kyoyama, Hiroyuki Nishimura, Hiroaki Kojima, Akitoshi Kuwabara, Yoshiki Kobayashi, Yumiko Kikuchi, Satoshi Hirata, Yusuke Moriyama, Gaku Watanabe, Wataru Akutsu, Koichi Nakai, Maki Yamada, Takeshi Gemma, Akihiko Uematsu, Kazutsugu |
| author_facet | Sakai, Kosuke Toda, Maiko Kyoyama, Hiroyuki Nishimura, Hiroaki Kojima, Akitoshi Kuwabara, Yoshiki Kobayashi, Yumiko Kikuchi, Satoshi Hirata, Yusuke Moriyama, Gaku Watanabe, Wataru Akutsu, Koichi Nakai, Maki Yamada, Takeshi Gemma, Akihiko Uematsu, Kazutsugu |
| author_sort | Sakai, Kosuke |
| collection | PubMed |
| description | Type III collagen is the major protein in the walls of blood vessels and hollow organs; it is decreased in patients with vascular Ehlers-Danlos syndrome (EDS). A 52-year-old man was admitted for severe back pain, and right hemothorax was suspected by chest computed tomography. Immediately after embolization for bleeding bronchial artery, aortic dissection occurred and was treated conservatively in the intensive-care unit. Vascular EDS with a mutation of COL3A1 cDNA (c.3175G>A) was diagnosed. When vascular EDS is suspected, the patient should be treated prophylactically, and a genetic examination should be performed to confirm the diagnosis. |
| format | Online Article Text |
| id | pubmed-6928492 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2019 |
| publisher | The Japanese Society of Internal Medicine |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-69284922019-12-26 Vascular Ehlers-Danlos Syndrome with a Novel Missense Mutation in COL3A1: A Man in His 50s with Aortic Dissection after Interventional Treatment for Hemothorax as the First Manifestation Sakai, Kosuke Toda, Maiko Kyoyama, Hiroyuki Nishimura, Hiroaki Kojima, Akitoshi Kuwabara, Yoshiki Kobayashi, Yumiko Kikuchi, Satoshi Hirata, Yusuke Moriyama, Gaku Watanabe, Wataru Akutsu, Koichi Nakai, Maki Yamada, Takeshi Gemma, Akihiko Uematsu, Kazutsugu Intern Med Case Report Type III collagen is the major protein in the walls of blood vessels and hollow organs; it is decreased in patients with vascular Ehlers-Danlos syndrome (EDS). A 52-year-old man was admitted for severe back pain, and right hemothorax was suspected by chest computed tomography. Immediately after embolization for bleeding bronchial artery, aortic dissection occurred and was treated conservatively in the intensive-care unit. Vascular EDS with a mutation of COL3A1 cDNA (c.3175G>A) was diagnosed. When vascular EDS is suspected, the patient should be treated prophylactically, and a genetic examination should be performed to confirm the diagnosis. The Japanese Society of Internal Medicine 2019-08-06 2019-12-01 /pmc/articles/PMC6928492/ /pubmed/31391389 http://dx.doi.org/10.2169/internalmedicine.2983-19 Text en Copyright © 2019 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/). |
| spellingShingle | Case Report Sakai, Kosuke Toda, Maiko Kyoyama, Hiroyuki Nishimura, Hiroaki Kojima, Akitoshi Kuwabara, Yoshiki Kobayashi, Yumiko Kikuchi, Satoshi Hirata, Yusuke Moriyama, Gaku Watanabe, Wataru Akutsu, Koichi Nakai, Maki Yamada, Takeshi Gemma, Akihiko Uematsu, Kazutsugu Vascular Ehlers-Danlos Syndrome with a Novel Missense Mutation in COL3A1: A Man in His 50s with Aortic Dissection after Interventional Treatment for Hemothorax as the First Manifestation |
| title | Vascular Ehlers-Danlos Syndrome with a Novel Missense Mutation in COL3A1: A Man in His 50s with Aortic Dissection after Interventional Treatment for Hemothorax as the First Manifestation |
| title_full | Vascular Ehlers-Danlos Syndrome with a Novel Missense Mutation in COL3A1: A Man in His 50s with Aortic Dissection after Interventional Treatment for Hemothorax as the First Manifestation |
| title_fullStr | Vascular Ehlers-Danlos Syndrome with a Novel Missense Mutation in COL3A1: A Man in His 50s with Aortic Dissection after Interventional Treatment for Hemothorax as the First Manifestation |
| title_full_unstemmed | Vascular Ehlers-Danlos Syndrome with a Novel Missense Mutation in COL3A1: A Man in His 50s with Aortic Dissection after Interventional Treatment for Hemothorax as the First Manifestation |
| title_short | Vascular Ehlers-Danlos Syndrome with a Novel Missense Mutation in COL3A1: A Man in His 50s with Aortic Dissection after Interventional Treatment for Hemothorax as the First Manifestation |
| title_sort | vascular ehlers-danlos syndrome with a novel missense mutation in col3a1: a man in his 50s with aortic dissection after interventional treatment for hemothorax as the first manifestation |
| topic | Case Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6928492/ https://www.ncbi.nlm.nih.gov/pubmed/31391389 http://dx.doi.org/10.2169/internalmedicine.2983-19 |
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