Mid-Aortic Syndrome in Williams-Beuren Syndrome with an Atypical Small-Sized Deletion of Chromosome 7q11.23 as Arteritis

被引：1

作者：

Byoun, Jeong Tae ^{[1
]}

Cho, Jae Young ^{[1
]}

Yun, Kyeong Ho ^{[1
]}

Rhee, Sang Jae ^{[1
]}

Yu, Seung Taek ^{[2
]}

Oh, Su Jin ^{[1
]}

机构：

[1] Wonkwang Univ Hosp, Dept Cardiol, 895 Muwang Ro, Iksan 54538, South Korea

[2] Wonkwang Univ Hosp, Dept Pediat, Iksan, South Korea

来源：

INTERNATIONAL HEART JOURNAL | 2021年 / 62卷 / 01期

关键词：

Hypertension; Aortic diseases; PHENOTYPE;

D O I：

10.1536/ihj.20-495

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Mid-aortic syndrome (MAS) is a rare condition characterized by stenosis of the distal thoracic and/or abdominal aorta. Williams-Beuren syndrome (WBS) is a relatively rare cause of MAS. We report a case of incidentally diagnosed MAS caused by WBS without typical manifestations caused by an atypical small-sized deletion in chromosome 7q11.23, which was initially misdiagnosed as Takayasu arteritis.

引用

页码：207 / 210

页数：4

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