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

Autor:	Su Jin Oh, Jae Young Cho, Jeong Tae Byoun, Sang Jae Rhee, Kyeong Ho Yun, Seung Taek Yu
Rok vydání:	2021
Předmět:	Male Williams Syndrome musculoskeletal diseases congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Williams-beuren syndrome Adolescent Computed Tomography Angiography Adrenergic beta-Antagonists Takayasu arteritis 030204 cardiovascular system & hematology Aortography Aortic disease Angiotensin Receptor Antagonists 03 medical and health sciences 0302 clinical medicine Fluorodeoxyglucose F18 medicine.artery medicine Humans cardiovascular diseases 030212 general & internal medicine Diagnostic Errors Aorta business.industry fungi Abdominal aorta Chromosome General Medicine Microarray Analysis medicine.disease Takayasu Arteritis Stenosis Treatment Outcome Echocardiography Positron-Emission Tomography Hypertension Drug Therapy Combination lipids (amino acids peptides and proteins) Chromosome Deletion Cardiology and Cardiovascular Medicine business
Zdroj:	International Heart Journal. 62:207-210
ISSN:	1349-3299 1349-2365
DOI:	10.1536/ihj.20-495
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83af508211c9c4221bd26d62a7d64965 https://doi.org/10.1536/ihj.20-495 Zobrazit plný text záznamu