Yu Hongxiao, Ruan Yang, Sun Manfang, Li Taole, Nie Zhihua
Department of Cardiology, Haicang Hospital, Haicang, Xiamen, China.
The School of Clinical Medicine, Fujian Medical University, Fuzhou, Fujian, China.
Front Pediatr. 2025 Aug 8;13:1580272. doi: 10.3389/fped.2025.1580272. eCollection 2025.
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.
威廉姆斯-贝伦综合征（WBS）是一种由7号染色体q11.23区域微缺失引起的多系统疾病。瓣上主动脉狭窄（SVAS）是WBS最常见的心血管并发症。然而，肥厚型心肌病（HCM）在该人群中鲜有报道。我们报告一例WBS患者，该患者婴儿期因SVAS接受了成功的手术修复，但后来发展为HCM。全面的基因检测和进一步的生物信息学分析显示，7q11.23位点缺失约1486 kb，随后的超声心动图显示了HCM的特征性表现。该病例突出了WBS与HCM之间罕见但具有临床意义的关联，为进一步研究WBS患者HCM的生物学机制或潜在生物标志物奠定了基础。
