Multiple stenotic arteriopathy in a 72-year-old female with Williams syndrome
Multiple stenotic arteriopathy in a 72-year-old female with Williams syndrome
复制标题
一名 72 岁威廉姆斯综合征女性多发性狭窄动脉病
作者：
Kana Unuma;K. Harada;M. Furutani;Y. Furutani;M. Nakajima;T. Nakanishi;R. Matsuoka;Ken
1961年和1962年，Williams等人和Beuren等人报告了一组心血管病变，包括瓣膜上主动脉狭窄(SVAS)和肺动脉狭窄(PAS)，作为婴儿或儿童智力和生长迟缓的特征(Williams-Beuren综合征(WBS)或Williams综合征(WS))。1 2成人WS后来广为人知，但关于长期病程的信息仍然很少。据报道，超过一半的WS成人患有肥胖症，超过18 岁的人中有63%患有高血压。与冠状动脉硬化伴室流出道梗阻有关的猝死在儿童中已有报道，但在成人中尚未见报道。
弹性蛋白基因7q11.23的单倍性不足与WS的血管异常有关。4成人WS的弹性蛋白基因的破坏伴随着动脉僵硬的矛盾减少，伴随着壁厚和弹力板的碎裂，5动脉壁中弹性蛋白的减少导致动脉平滑肌细胞的增殖增加。6在这里，我们报告一例72岁的女性WS尸检病例，其WS显示多条大动脉分叉下游节段性狭窄。据我们所知，这名患者是尸检中年龄最大的WS患者，其独特的发现是身材矮小、脑体积小和…
In 1961 and 1962, Williams et al and Beuren et al reported a combination of cardiovascular lesions including supravalvular aortic stenosis (SVAS) and pulmonary artery stenosis (PAS) as features of mental and growth retardation in infants or children (Williams–Beuren syndrome (WBS) or Williams syndrome (WS)).1 2 Adult WS has subsequently become well known, but there is still little information on the long-term course. More than half of adults with WS are reported to be obese and 63% over the age of 18 years are hypertensive. Sudden death related to coronary sclerosis with ventricular outflow obstruction has been reported in children3 but not in adults.
The haploinsufficiency of the elastin gene at 7q11.23 has been implicated in vascular abnormalities in WS.4 The disruption of the elastin gene in adult WS is accompanied by a paradoxical reduction in arterial stiffness with wall thickening and fragmented elastic laminae,5 and the reduced elastin in arterial walls leads to increased proliferation of arterial smooth muscle cells.6 Here, we report an autopsy case of a 72-year-old woman with WS showing segmental stenosis downstream of the bifurcations of the multiple large arteries. To our knowledge, this patient is the oldest person with WS to have undergone autopsy with unique findings of short stature, small brain and …
删除%20的%20的%20弹性蛋白%20基因%20at%207q11.23%20发生在%20中的%20大约%2090%%20的%20患者%20患有%20Williams%20综合征。
影响因子：
9.8
作者：
Nickerson,E;Greenberg,F;Keating,MT;McCaskill,C;Shaffer,LG
通讯作者：
Shaffer,LG