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

Int Heart J. 2021 Jan 30;62(1):207-210. doi: 10.1536/ihj.20-495. Epub 2021 Jan 16.

Abstract

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.

Keywords: Aortic diseases; Hypertension.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adrenergic beta-Antagonists / therapeutic use
  • Angiotensin Receptor Antagonists / therapeutic use
  • Aorta / abnormalities*
  • Aorta / diagnostic imaging
  • Aortography / methods
  • Chromosome Deletion
  • Computed Tomography Angiography / methods
  • Diagnostic Errors
  • Drug Therapy, Combination
  • Echocardiography / methods
  • Fluorodeoxyglucose F18 / pharmacokinetics
  • Humans
  • Hypertension / diagnosis
  • Hypertension / drug therapy
  • Male
  • Microarray Analysis / methods
  • Positron-Emission Tomography / methods
  • Takayasu Arteritis / diagnosis*
  • Treatment Outcome
  • Williams Syndrome / diagnosis*
  • Williams Syndrome / genetics*

Substances

  • Adrenergic beta-Antagonists
  • Angiotensin Receptor Antagonists
  • Fluorodeoxyglucose F18