title: Moyamoya disease and artery tortuosity as rare phenotypes in a patient with an elastin mutation.
abstract: Sporadic and familial elastin mutations can occur in large vessel stenosis such as supravalvular aortic stenosis and narrowing of the descending aorta. However, there are very few reports regarding the arteriopathy of cerebral, pulmonary or abdominal arteries in elastin mutations. We herein report the case of a Japanese female patient presenting with multiple arteriopathy including moyamoya disease, a tortuosity of abdominal arteries and pulmonary hypertension due to peripheral pulmonary artery stenosis. This case suggests the possible progression of cerebral arteriopathy including moyamoya disease in patients with elastin mutations. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, Japan.
authors.forename: Tsukasa
authors.initials: T
authors.lastname: Ishiwata
authors.affiliation: Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, Japan.
authors.forename: Nobuhiro
authors.initials: N
authors.lastname: Tanabe
authors.affiliation: Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, Japan.
authors.forename: Ayako
authors.initials: A
authors.lastname: Shigeta
authors.affiliation: Department of Radiology, Graduate School of Medicine, Chiba University, Chiba, Japan.
authors.forename: Hajime
authors.initials: H
authors.lastname: Yokota
authors.affiliation: Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Tsushima
authors.affiliation: Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, Japan.
authors.forename: Jiro
authors.initials: J
authors.lastname: Terada
authors.affiliation: Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, Japan.
authors.forename: Seiichiro
authors.initials: S
authors.lastname: Sakao
authors.affiliation: Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan.
authors.forename: Hiroko
authors.initials: H
authors.lastname: Morisaki
authors.affiliation: Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan.
authors.forename: Takayuki
authors.initials: T
authors.lastname: Morisaki
authors.affiliation: Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, Japan.
authors.forename: Koichiro
authors.initials: K
authors.lastname: Tatsumi
mesh_terms: D000328:Adult; D001158:Arteries / Q000002:abnormalities* / Q000503:physiopathology; D003251:Constriction, Pathologic / Q000235:genetics* / Q000503:physiopathology; D004549:Elastin / Q000235:genetics*; D005260:Female; D006801:Humans; D007593:Joint Instability / Q000235:genetics* / Q000503:physiopathology; D009072:Moyamoya Disease / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation; D010641:Phenotype; D012873:Skin Diseases, Genetic / Q000235:genetics* / Q000503:physiopathology; D054079:Vascular Malformations / Q000235:genetics* / Q000503:physiopathology
chemical_list: D004549:Elastin
keywords: artery tortuosity; cutis laxa; elastin; moyamoya disease; peripheral pulmonary artery stenosis; pulmonary hypertension