Williams综合征合并心血管疾病研究进展

Research progress on Williams syndrome complicated with cardiovascular disease

Williams综合征是一种先天性多系统疾病,由弹性蛋白缺乏引起的心血管异常是Williams综合征患者发病和死亡的主要原因。近期研究发现,80%的Williams综合征患者存在心血管异常,其中大多数为动脉狭窄,尤以主动脉瓣上狭窄和肺动脉狭窄多见。手术是治疗动脉狭窄的主要手段,而且多数中心的主动脉瓣上狭窄手术结果良好,但经导管介入治疗动脉狭窄的效果仍不明显,肺动脉重建对周围肺动脉狭窄有良好的治疗效果。遗传诊断、手术技术和治疗方案的进步有望显著改善这些患者的心血管结局。本文就Williams综合征合并心血管病的最新研究进展作一综述。

Williams syndrome is a congenital multisystem disease.Cardiovascular abnormality caused by elastin deficiency is the main cause of morbidity and mortality in Williams syndrome patients.Recent studies have found that 80%of Williams syndrome patients have cardiovascular abnormalities,most of which are arterial stenosis,especially the aortic valve stenosis and pulmonary artery stenosis.Operation is the main method to treat the stenosis of the artery,and the results of the operation on the aortic valve stenosis in most centers are good,but the effect of transcatheter intervention is still not obvious,pulmonary artery reconstruction has a good effect on the treatment of peripheral pulmonary artery stenosis.Advances in genetic diagnosis,surgical techniques and treatment regimens are expected to significantly improve cardiovascular outcomes in these patients.This article reviews the latest research progress of Williams syndrome combined with cardiovascular disease.