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

作　　者：Zixi Zhang Cancan Wang Qiuzhen Lin Yichao Xiao Qiming Liu 

机构地区：[1]Department of Cardiovascular Medicine,The Second Xiangya Hospital,Central South University,Changsha 410011,Hunan Province,China [2]Department of Metabolic Endocrinology,The Second Xiangya Hospital,Central South University,Changsha 410011,Hunan Province,China

出　　处：《Cardiovascular Innovations and Applications》2024年第1期276-282,共7页心血管创新与应用(英文)

基　　金：supported by the National Natural Science Foundation of China(Nos.82070356 and 81770337);the Key Project of Hunan Provincial Science and Technology Innovation(No.2020SK1013);the Hunan Provincial Natural Science Foundation of China(Nos.2021JJ30033 and 2023JJ30791);the Clinical Medical Technology Innovation Guidance Project of Hunan Science and Technology Agency(No.2021SK53519).

摘　　要：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 as-sociated 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.

关 键 词：aortic stenosis congenital heart disease case report genetic disease Williams-Beuren syndrome 

分 类 号：R725.9[医药卫生—儿科]