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A Case of 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.
Intern Med 2019IM

Abstract

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.

Authors+Show Affiliations

Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan. Department of Pulmonary Medicine and Oncology, Graduate School of Medicine, Nippon Medical School, Japan.Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan.Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan.Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan.Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan.Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan.Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan. Department of Pulmonary Medicine and Oncology, Graduate School of Medicine, Nippon Medical School, Japan.Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan.Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan.Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan.Department of Diagnostic Imaging, Saitama Medical Center, Saitama Medical University, Japan.Department of Cardiovascular Medicine, Nippon Medical School, Japan.Division of Personalized Genetic Medicine, Nippon Medical School Hospital, Japan.Division of Personalized Genetic Medicine, Nippon Medical School Hospital, Japan.Department of Pulmonary Medicine and Oncology, Graduate School of Medicine, Nippon Medical School, Japan.Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31391389

Citation

Sakai, Kosuke, et al. "A Case of 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." Internal Medicine (Tokyo, Japan), 2019.
Sakai K, Toda M, Kyoyama H, et al. A Case of 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. Intern Med. 2019.
Sakai, K., Toda, M., Kyoyama, H., Nishimura, H., Kojima, A., Kuwabara, Y., ... Uematsu, K. (2019). A Case of 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. Internal Medicine (Tokyo, Japan), doi:10.2169/internalmedicine.2983-19.
Sakai K, et al. A Case of 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. Intern Med. 2019 Aug 6; PubMed PMID: 31391389.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A Case of 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. AU - Sakai,Kosuke, AU - Toda,Maiko, AU - Kyoyama,Hiroyuki, AU - Nishimura,Hiroaki, AU - Kojima,Akitoshi, AU - Kuwabara,Yoshiki, AU - Kobayashi,Yumiko, AU - Kikuchi,Satoshi, AU - Hirata,Yusuke, AU - Moriyama,Gaku, AU - Watanabe,Wataru, AU - Akutsu,Koichi, AU - Nakai,Maki, AU - Yamada,Takeshi, AU - Gemma,Akihiko, AU - Uematsu,Kazutsugu, Y1 - 2019/08/06/ PY - 2019/8/9/entrez PY - 2019/8/9/pubmed PY - 2019/8/9/medline KW - COL3A1 KW - angiography KW - aortic dissection KW - hemothorax KW - vascular Ehlers-Danlos syndrome JF - Internal medicine (Tokyo, Japan) JO - Intern. Med. N2 - 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. SN - 1349-7235 UR - https://www.unboundmedicine.com/medline/citation/31391389/A_Case_of_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 L2 - https://dx.doi.org/10.2169/internalmedicine.2983-19 DB - PRIME DP - Unbound Medicine ER -