ArticleHeart views : the official journal of the Gulf Heart Association
Computerized Tomography Use in Williams-Beuren Syndrome Aortopathy.
Article in Heart views : the official journal of the Gulf Heart Association. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 4 citations in OpenAlex.
- The importance of FDG PET/CT in the diagnostic process of the middle aortic syndrome in a 15-year-old boy patient with suspected systemic vasculitis and final diagnosis of Williams-Beuren syndrome.Rheumatology international · 2020Review
- Williams-Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH.Journal of genetics · 2019Article
- Williams-Beuren Syndrome: The Role of Cardiac CT in Diagnosis.Methodist DeBakey cardiovascular journalArticle
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Authors and funding
4 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Williams-Beuren syndrome is a multisystem genetic disorder caused by hemizygous deletion on chromosome 7q11.23, encompassing about 28 genes including the elastin gene, ELN. Cardiovascular abnormalities are frequent and are related to elastin insufficiency. These abnormalities include supravalvular aortic stenosis (SVAS) in 70% of case, pulmonic valve stenosis, and renal artery stenosis. Definitive therapy for supravalvar aortic stenosis consists of surgical correction of the arteriopathies. Outcomes after surgical correction of SVAS depend on the extent of the arteriopathy and the presence of other associated lesions. We present a case of a 4-year-old boy, with Williams - Beuren syndrome with an SVAS. The patient was assessed with computerized tomography angiography to determine the extent of the aortopathy before surgical intervention.
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