大動脈疾患―大動脈解離と胸腹部大動脈瘤診断と治療の進歩

今井靖, 永井良三 - 日本内科学会雑誌, 2010 - jstage.jst.go.jp
Marfan 症候群ではないが遺伝性大動脈瘤の中には血管構成蛋白である平滑筋ミオシン重鎖
MYH11, α 平滑筋アクチン ACTA2 の遺伝子異常が家族性大動脈瘤家系において報告され …

遺伝性大動脈瘤・解離: 臨床診断と遺伝学的検査

森崎裕子 - 日本血管外科学会雑誌, 2023 - jstage.jst.go.jp
抄録 Marfan 症候群などの遺伝性大動脈瘤・解離は, 動脈硬化, 高血圧, 喫煙などの一般的リスク
因子を伴わない若年者にも発症し, 胸部大動脈に好発し, より小さい大動脈径でも解離のリスクが …

Familial legacy of thoracic aortic aneurysm

JA Elefteriades, BA Ziganshin - Circulation, 2020 - Am Heart Assoc
Marfan disease was first reported in 1896, Ehlers-Danlos syndrome in 1901, and Loeys-
Dietz disease in 2005. These are syndromic pathologies that involve thoracic aortic …

[PDF][PDF] Genetics of Thoracic Aortic Aneurysm

AJ Marian, H Watkins, C Seidman - Circulation Research, 2013 - scholar.archive.org
Aortic aneurysm, including both abdominal aortic aneurysm and thoracic aortic aneurysm, is
the cause of death of 1% to 2% of the Western population. This review focuses only on …

Marfan 症候群と類縁疾患の診断と管理─ オーバービュー

武田憲文 - 医学のあゆみ, 2018 - pieronline.jp
Marfan 症候群をはじめとする家族性 (遺伝性) 大動脈瘤・解離症は, 外科的治療法の発達により
その生命予後は改善したが, 一生涯にわたって進行する多系統障害への対策は十分でない …

Identification of a chromosome 11q23. 2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder

CJ Vaughan, M Casey, J He, M Veugelers… - Circulation, 2001 - Am Heart Assoc
Background—Aortic aneurysms cause significant mortality, and> 20% relate to hereditary
disorders. Familial aortic aneurysm (FAA) has been described in such conditions as the …

[引用][C] Thoracic aortic aneurysm. New evidence for fibrillin-1 involvement

G Pepe, B Giusti, M Attanasio, L Evangelisti… - Minerva …, 1999 - europepmc.org
[Thoracic aortic aneurysm. New evidence for fibrillin-1 involvement]. - Abstract - Europe PMC
Sign in | Create an account https://orcid.org Europe PMC Menu About Tools Developers Help …

Genetics of thoracic aortic aneurysm: at the crossroad of transforming growth factor-β signaling and vascular smooth muscle cell contractility

E Gillis, L Van Laer, BL Loeys - Circulation research, 2013 - Am Heart Assoc
Aortic aneurysm, including both abdominal aortic aneurysm and thoracic aortic aneurysm, is
the cause of death of 1% to 2% of the Western population. This review focuses only on …

Hereditary Aortic Aneurysms and Dissections: Clinical Diagnosis and Genetic Testing

H Morisaki - Annals of Vascular Diseases, 2024 - jstage.jst.go.jp
Hereditary aortic aneurysms and dissections, such as Marfan syndrome, differ in that they
occur in younger patients without generally recognized risk factors, have a predilection for …

Genetics of thoracic aortic aneurysms

G Jondeau, C Boileau - Current atherosclerosis reports, 2012 - Springer
Understanding of the genetics of thoracic aortic aneurysm is increasing rapidly, due to
discovery of novel genes, better definition of the phenotypes associated with mutations in a …