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

Jeong Tae Byoun; Jae Young Cho; Kyeong Ho Yun; Sang Jae Rhee; Seung Taek Yu; Su Jin Oh

doi:10.1536/ihj.20-495

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

Jeong Tae Byoun, Jae Young Cho, Kyeong Ho Yun, Sang Jae Rhee, Seung Taek Yu, Su Jin Oh

著者情報

キーワード: Hypertension, Aortic diseases

ジャーナルフリー早期公開

論文ID: 20-495

DOI https://doi.org/10.1536/ihj.20-495

この記事には本公開記事があります。

The final version of this article is now available: Vol. 62 (2021), No. 1 pp. 207-210

詳細

抄録

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.

責任著者(Corresponding author)

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