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Moyamoya disease and artery tortuosity as rare phenotypes in a patient with an elastin mutation
Author(s) -
Ishiwata Tsukasa,
Tanabe Nobuhiro,
Shigeta Ayako,
Yokota Hajime,
Tsushima Kenji,
Terada Jiro,
Sakao Seiichiro,
Morisaki Hiroko,
Morisaki Takayuki,
Tatsumi Koichiro
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37662
Subject(s) - elastin , moyamoya disease , medicine , supravalvular aortic stenosis , cardiology , abdominal aorta , stenosis , tortuosity , cerebral arteries , aorta , pathology , geotechnical engineering , porosity , engineering
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.