Tag: Williams-Beuren syndrome

Unveiling Mysteries in Congenital Diseases: A Case Report of Williams-Beuren Syndrome

Announcing a new article publication for Cardiovascular Innovations and Applications journal.      Williams-Beuren syndrome (WBS) is an autosomal dominant genetic disorder closely associated with cardiovascular malformations, distinctive facial features, impaired cognitive ability, abnormal growth and development, endocrine dysfunction, and other related systems.

In patients with WBS, the presence of cardiovascular malformations often necessitates genetic testing. This testing not only confirms the diagnosis but also facilitates the identification of associated syndromic features. Early and accurate diagnosis through genetic testing is instrumental for guiding further investigations, and initiating targeted therapies and support services. Such proactive management can substantially improve prognosis and quality of life for patients with WBS. Although surgery remains the most effective approach for repairing cardiovascular malformations, its implementation entails notable surgical risks.

Clinicians should prioritize the identification and diagnosis of WBS, and strive to develop an effective management model involving collaboration among hospitals, families, and society. Here, we presented a case report of a patient with WBS and congenital heart disease, to contribute to a deeper understanding of this condition.

https://www.scienceopen.com/hosted-document?doi=10.15212/CVIA.2024.0005

CVIA is available on the ScienceOpen platform and at Cardiovascular Innovations and Applications. Submissions may be made using ScholarOne Manuscripts. There are no author submission or article processing fees. Cardiovascular Innovations and Applications is indexed in the EMBASE, EBSCO, ESCI, OCLC, Primo Central (Ex Libris), Sherpa Romeo, NISC (National Information Services Corporation), DOAJ, Index Copernicus, Research4Life and Ulrich’s web Databases. Follow CVIA on Twitter @CVIA_Journal; or Facebook.

Zixi Zhang, Cancan Wang and Qiuzhen Lin et al. Unveiling Mysteries in Congenital Diseases: A Case Report of Williams-Beuren Syndrome. CVIA. 2024. Vol. 9(1). DOI: 10.15212/CVIA.2024.0005

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