CASE REPORT article
Front. Pediatr.
Sec. Pediatric Cardiology
Volume 13 - 2025 | doi: 10.3389/fped.2025.1580272
Hypertrophic Cardiomyopathy Occurred after Successful Surgical Correction of Supravalvular Aortic Stenosis: A Case Report of Williams-Beuren Syndrome
Provisionally accepted
- 1Xiamen Medical College, Xiamen, China
- 2Zhongshan Hospital, Xiamen University, Xiamen, Fujian Province, China
- 3Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan Province, China
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Williams-Beuren syndrome (WBS) is a multi-systemic disorder caused by a microdeletion on chromosome 7q11.23.The supravalvular aortic stenosis (SVAS) is the most prevalent cardiovascular complication of WBS. However, hypertrophic cardiomyopathy (HCM) has rarely been reported in this population. We present a case of patient with WBS who underwent successful surgical repair for SVAS in infancy but later developed HCM. Comprehensive genetic testing and further bioinformatic analysis revealed a deletion of approximately 1486 kb at the 7q11.23 locus, and subsequent echocardiography demonstrated characteristic features of HCM. This case highlights the rare but clinically significant association between WBS and HCM, providing a foundation for further investigation into the biological mechanisms or potential biomarkers for HCM in WBS patients.
Keywords: Williams-Beuren syndrome, Hypertrophic Cardiomyopathy, Supravalvular aortic stenosis, Bioinformatics analysis, Mavacamten
Received: 20 Feb 2025; Accepted: 16 Jul 2025.
Copyright: © 2025 Yu, Ruan, Sun, Li and Nie. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Taole Li, Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan Province, China
Zhihua Nie, Xiamen Medical College, Xiamen, China
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