Abstract
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.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
