We report a case of a diagnosis of Williams syndrome in a 57-year-old male referred for cardiac surgery with a presumptive diagnosis of aortic valvular stenosis and ascending aortic aneurysm, supravalvular stenosis being first suspected during surgery. Williams syndrome was subsequently confirmed via genetics testing. In patients presenting with an ascending aortic aneurysm, developmental delay, and with poorly visualized coronary arteries during angiography, the diagnosis of supravalvular aortic stenosis or Williams syndrome should be considered.
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http://dx.doi.org/10.1111/j.1540-8191.2010.01020.x | DOI Listing |
Am J Med Genet A
January 2025
Gastroenterology and Endoscopy Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Gastrointestinal (GI) symptoms are common in patients with Williams-Beuren syndrome (WBS), but their prevalence and possible causes are not yet fully known. This study assessed GI symptoms' prevalence and their possible origin by performing a predefined set of tests in adult WBS patients. Laboratory tests and a questionnaire were administered to assess GI symptoms and dietary habits.
View Article and Find Full Text PDFCureus
December 2024
Critical Care, Captain James A. Lovell Federal Health Care Center, Rosalind Franklin University of Medicine and Science, North Chicago, USA.
This is a case of a young, 20-year-old, male Navy recruit who was admitted to our healthcare facility with intermittent atypical chest pain and limiting exertional symptoms and was diagnosed with myocardial bridging (MB) as the most likely etiology of his chest after the complete cardiac workup, leading to his career limitations due to potential risks. Our patient presented with atypical chest pain and limiting exertional symptoms. Chest pain was non-radiating.
View Article and Find Full Text PDFEClinicalMedicine
February 2025
Division of Respiratory Medicine, Department of Pediatrics, University of California San Diego, Rady Children's Hospital of San Diego, San Diego, CA, USA.
Background: Children from racial and ethnic minority groups are at greater risk for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, but it is unclear whether they have increased risk for post-acute sequelae of SARS-CoV-2 (PASC). Our objectives were to assess whether the risk of respiratory and neurologic PASC differs by race/ethnicity and social drivers of health.
Methods: We conducted a retrospective cohort study of individuals <21 years seeking care at 24 health systems across the U.
Cardiol Young
January 2025
Division of Cardiothoracic Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
This report describes the first long-term survival following a heart transplant for Williams syndrome-associated cardiac pathologies. An 11-year-old patient with severe global left ventricular dysfunction presented with heart failure and underwent heart transplantation. Her peri- and post-operative courses were complicated by hypertension related to underlying vascular pathology.
View Article and Find Full Text PDFSeveral techniques for the surgical correction of congenital supravalvular aortic stenosis have been devised. We describe the step-by-step surgical approach of a slide aortoplasty to correct localized supravalvular aortic stenosis in a 3-year-old child with Williams syndrome.
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