Hypertrophic cardiomyopathy occurred after successful surgical correction of supravalvular aortic stenosis: a case report of Williams–Beuren syndrome
Williams–Beuren syndrome (WBS) is a multisystemic 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 pre...
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Frontiers Media S.A.
2025-08-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1580272/full |
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| author | Hongxiao Yu Yang Ruan Manfang Sun Taole Li Zhihua Nie |
| author_facet | Hongxiao Yu Yang Ruan Manfang Sun Taole Li Zhihua Nie |
| author_sort | Hongxiao Yu |
| collection | DOAJ |
| description | Williams–Beuren syndrome (WBS) is a multisystemic 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 a 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 1,486 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. |
| format | Article |
| id | doaj-art-ca3270eec2aa4cde9805f5a52a824c38 |
| institution | Kabale University |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-ca3270eec2aa4cde9805f5a52a824c382025-08-20T03:38:49ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-08-011310.3389/fped.2025.15802721580272Hypertrophic cardiomyopathy occurred after successful surgical correction of supravalvular aortic stenosis: a case report of Williams–Beuren syndromeHongxiao Yu0Yang Ruan1Manfang Sun2Taole Li3Zhihua Nie4Department of Cardiology, Haicang Hospital, Haicang, Xiamen, ChinaThe School of Clinical Medicine, Fujian Medical University, Fuzhou, Fujian, ChinaDepartment of Cardiology, Haicang Hospital, Haicang, Xiamen, ChinaDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, ChinaDepartment of Cardiology, Haicang Hospital, Haicang, Xiamen, ChinaWilliams–Beuren syndrome (WBS) is a multisystemic 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 a 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 1,486 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.https://www.frontiersin.org/articles/10.3389/fped.2025.1580272/fullWilliams–Beuren syndromehypertrophic cardiomyopathysupravalvular aortic stenosisbioinformatics analysismavacamten |
| spellingShingle | Hongxiao Yu Yang Ruan Manfang Sun Taole Li Zhihua Nie Hypertrophic cardiomyopathy occurred after successful surgical correction of supravalvular aortic stenosis: a case report of Williams–Beuren syndrome Frontiers in Pediatrics Williams–Beuren syndrome hypertrophic cardiomyopathy supravalvular aortic stenosis bioinformatics analysis mavacamten |
| title | Hypertrophic cardiomyopathy occurred after successful surgical correction of supravalvular aortic stenosis: a case report of Williams–Beuren syndrome |
| title_full | Hypertrophic cardiomyopathy occurred after successful surgical correction of supravalvular aortic stenosis: a case report of Williams–Beuren syndrome |
| title_fullStr | Hypertrophic cardiomyopathy occurred after successful surgical correction of supravalvular aortic stenosis: a case report of Williams–Beuren syndrome |
| title_full_unstemmed | Hypertrophic cardiomyopathy occurred after successful surgical correction of supravalvular aortic stenosis: a case report of Williams–Beuren syndrome |
| title_short | Hypertrophic cardiomyopathy occurred after successful surgical correction of supravalvular aortic stenosis: a case report of Williams–Beuren syndrome |
| title_sort | hypertrophic cardiomyopathy occurred after successful surgical correction of supravalvular aortic stenosis a case report of williams beuren syndrome |
| topic | Williams–Beuren syndrome hypertrophic cardiomyopathy supravalvular aortic stenosis bioinformatics analysis mavacamten |
| url | https://www.frontiersin.org/articles/10.3389/fped.2025.1580272/full |
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