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