Moyamoya disease and artery tortuosity as rare phenotypes in a patient with an elastin mutation
Moyamoya disease and artery tortuosity as rare phenotypes in a patient with an elastin mutation
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烟雾病和动脉迂曲是弹性蛋白突变患者的罕见表型
DOI：
10.1002/ajmg.a.37662
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发表时间：
2016
期刊：
影响因子：
2
通讯作者：
Tatsumi K:
中科院分区：
文献类型：
--
作者：
Ishiwata T;Tanabe N;Shigeta A;Yokota H;Tsushima K;Terada J;Sakao S;Morisaki H;Morisaki T;Tatsumi K:
大血管狭窄，如主动脉瓣上狭窄和降主动脉狭窄，可发生零星和家族性弹性蛋白突变。然而，关于弹性蛋白突变引起的脑、肺或腹动脉动脉病变的报道很少。我们在此报告一例日本女性患者，表现为多发性动脉病变，包括烟雾病、腹部动脉迂曲和外周肺动脉狭窄引起的肺动脉高压。本例提示弹性蛋白突变患者脑动脉病变包括烟雾病可能进展。© 2016 Wiley Periodicals，Inc.
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.