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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.
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http://dx.doi.org/10.1536/ihj.20-495 | DOI Listing |
J Cardiothorac Surg
June 2025
Department of Cardiology, Jiangxi Provincial People's Hospital, The First Affiliated Hospital of Nanchang Medical College, Nanchang, 330000, China.
Background: Congenital focal abdominal aortic coarctation (CAAC) is a rare vascular malformation frequently misdiagnosed as mid-aortic syndrome (MAS). A significant challenge in managing CAAC, particularly in young individuals, is addressing the coarctation while accommodating ongoing vascular growth and development. This case highlights the value of multidisciplinary collaboration and imaging-guided stentless balloon angioplasty in preserving vascular growth potential.
View Article and Find Full Text PDFJTCVS Tech
April 2025
Department of Thoracic and Cardiovascular Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
Cardiol Young
November 2024
Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, South Korea.
J Clin Med
November 2024
Department of Pediatrics and Nephrology, Medical University of Warsaw, 02-091 Warsaw, Poland.
Cureus
October 2024
Radiodiagnosis, Dr. D. Y. Patil Medical College, Hospital and Research Center, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.