{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,22]],"date-time":"2026-02-22T18:27:25Z","timestamp":1771784845782,"version":"3.50.1"},"reference-count":8,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2021,12,16]],"date-time":"2021-12-16T00:00:00Z","timestamp":1639612800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Background: Williams\u2013Beuren syndrome (WS) is a rare, complex, congenital developmental disorder including cardiovascular manifestations, intellectual disability and a peculiar cognitive and behavior profile. Supravalvular aortic stenosis (SVAS) is the most frequent cardiovascular abnormality in WS children. Data on WS patients in sub-Saharan Africa are scarce. A genetic study is usually required for a definite diagnosis, but genetic testing is often unavailable in developing countries and the combination of a typical clinical phenotype and echocardiographic profile helps to confirm the diagnosis. Case Report: We report the case of a 5-year-old Ugandan child admitted to a large no profit hospital after he was initially managed as a case of infective endocarditis. A physical examination revealed the typical features of WS. A cardiac echo showed severe SVAS (peak gradient 80 mmHg) with a normal anatomy and function of the aortic valve and mild valvular pulmonary stenosis. The child also had a moderate intellectual disability and a characteristic facies consistent with WS. Conclusion: We present the first reported case of WS in Uganda. Cardiac echo and a characteristic clinical picture could be enough to exclude more common causes of heart failure (i.e., rheumatic heart disease) and to make the diagnosis even when specific genetic tests are not available.<\/jats:p>","DOI":"10.3390\/children8121192","type":"journal-article","created":{"date-parts":[[2021,12,16]],"date-time":"2021-12-16T11:27:36Z","timestamp":1639654056000},"page":"1192","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A Case of William\u2019s Syndrome in a Ugandan Child: A Feasible Diagnosis Even in a Low-Resource Setting"],"prefix":"10.3390","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9985-7407","authenticated-orcid":false,"given":"Massimo","family":"Mapelli","sequence":"first","affiliation":[{"name":"Centro Cardiologico Monzino, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), 20138 Milan, Italy"},{"name":"Department of Clinical Sciences and Community Health, Cardiovascular Section, University of Milan, 20122 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Zagni","sequence":"additional","affiliation":[{"name":"Terapia Intensiva Neonatale, Ospedale Fatebenefratelli P.O. Macedonio Melloni, Via Macedonio Melloni 52, 20129 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valeria","family":"Calbi","sequence":"additional","affiliation":[{"name":"San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), IRCCS San Raffaele Scientific Institute, Via Olgettina, 60, 20132 Milan, Italy"},{"name":"Pediatric Immunohematology Unit and BMT Program, IRCCS San Raffaele Scientific Institute, Via Olgettina, 60, 20132 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aliku","family":"Twalib","sequence":"additional","affiliation":[{"name":"Division of Paediatric Cardiology Uganda Heart Institute, Mulago Hospital and Complex, Kampala P.O. Box 37392, Uganda"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Ferrara","sequence":"additional","affiliation":[{"name":"Medical Oncology Department, Fondazione IRCCS Istituto Nazionale dei Tumori, 20133 Milan, Italy"},{"name":"Department of Research, Molecular Immunology Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, 20133 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piergiuseppe","family":"Agostoni","sequence":"additional","affiliation":[{"name":"Centro Cardiologico Monzino, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), 20138 Milan, Italy"},{"name":"Department of Clinical Sciences and Community Health, Cardiovascular Section, University of Milan, 20122 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,12,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1311","DOI":"10.1161\/01.CIR.24.6.1311","article-title":"Supravalvular aortic stenosis","volume":"24","author":"Williams","year":"1961","journal-title":"Circulation"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1016\/S0022-3476(88)80272-5","article-title":"Natural history of Williams syndrome","volume":"113","author":"Morris","year":"1988","journal-title":"J. Pediatr."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1161\/01.CIR.92.1.142","article-title":"Genetic approaches to cardiovascular disease: Supravalvular aortic stenosis, Williams syndrome and long-QT syndrome","volume":"92","author":"Keating","year":"1995","journal-title":"Circulation"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1783","DOI":"10.1172\/JCI4487","article-title":"Novel arterial pathology in mice and humans hemizygous for elastin","volume":"102","author":"Li","year":"1998","journal-title":"J. Clin. Investig."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1017\/S1047951100007356","article-title":"Natural course of supravalvular aortic stenosis and peripheral pulmonary stenosis in Williams syndrome","volume":"9","author":"Kim","year":"1999","journal-title":"Cardiol. Young"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1002\/ajmg.1320520309","article-title":"Three decades of follow up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome","volume":"52","author":"Wessel","year":"1994","journal-title":"Am. J. Med. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1136\/jmg.39.8.554","article-title":"Cardiovascular manifestations in 75 patients with Williams syndrome","volume":"39","author":"Eronen","year":"2002","journal-title":"J. Med. Genet."},{"key":"ref_8","first-page":"462","article-title":"Williams-Beuren syndrome: Cardiovascular abnormalities in 20 patients diagnosed with fluorescence in situ hybridization","volume":"81","author":"Sugayama","year":"2003","journal-title":"Arg. Bras. Cardiol."}],"container-title":["Children"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2227-9067\/8\/12\/1192\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T07:50:07Z","timestamp":1760169007000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2227-9067\/8\/12\/1192"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,16]]},"references-count":8,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2021,12]]}},"alternative-id":["children8121192"],"URL":"https:\/\/doi.org\/10.3390\/children8121192","relation":{},"ISSN":["2227-9067"],"issn-type":[{"value":"2227-9067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,12,16]]}}}