【摘要】 目的分析1岁前诊断为Williams综合征患者合并先天性心血管病的发病率、类型及中期预后。方法回顾性分析2008年1月至2020年8月诊断为Williams综合征患者的临床资料,通过全外显子测序技术明确诊断,心脏超声评估患者心血管发病情况,并比较随访初始和最近或术前的血管狭窄处压差值。结果本次研究共纳入110例在1岁前被确诊并进行了心血管系统检查的Williams综合征患者,确诊年龄(130±105)d,随访时间(3.0±2.2)年,其中男性64例,女性46例。99名(99/110,90%)患者合并有先天性心血管畸形,其中最常见的为主动脉瓣上狭窄,其次为外周肺动脉狭窄。在随访期间,主动脉瓣上狭窄处压差基本保持不变,而外周肺动脉狭窄压差可随时间的推移而自发降低从(56±24)mm Hg降至(27±18)mm Hg,P<0.001。18例患者接受了外科手术矫治主动脉瓣上狭窄,压差由术前的(105.17±39.84)mm Hg降至术后7天的(18.42±8.73)mm Hg(P<0.001),其中2名患者术后再发狭窄,1名合并重度双侧心室流出道梗阻患者死亡。结论 Williams综合征患者心血管疾病发病率高,主动脉瓣上狭窄和外周肺动脉狭窄为心血管畸形的主要类型,也常合并其他心内畸形。其中主动脉瓣上狭窄严重程度常保持不变,而大部分外周肺动脉狭窄包括重度狭窄均可自发地得到改善。手术治疗Williams综合征合并主动脉瓣上狭窄的疗效满意,但有再狭窄可能。更多还原

【Abstract】 Objective To analyze the incidence rate, type and middle-term prognosis of congenital cardiovascular malformations in patients with Williams syndrome before 1 year of age. Methods The clinical data of patients diagnosed with Williams syndrome from January 2008 to August 2020 were retrospectively reviewed.The diagnosis was confirmed by whole exome sequencing and cardiovascular abnormalities were diagnosed using echocardiography. The initial and latest or pre-interventional data were compared using paired Student’s t test to evaluate the pressure gradient change. Results 110 patients with Williams syndrome were included, with 64 males and 46 females and the age at presentation(130 ± 105) days and follow-up of(3.0 ± 2.2) years. Congenital cardiovascular malformations were present in 90% of the patients. The most common lesions were supravalvular aortic stenosis and peripheral pulmonary artery stenosis. During follow-up, the pressure gradient at the supravalvular aortic stenosis remained unchanged, whereas the pressure gradient at the peripheral pulmonary stenosis spontaneously decrease with the lapse of time [from(56 ± 24) mm Hg to(27 ± 18) mm Hg,P<0.001].Eighteen patients with supravalvular aortic stenosis underwent surgical treatment and the pressure gradient decreased from(105.17±39.84) mm Hg to(18.42±8.73) mm Hg after operation(P<0.001). Two patients developed recurrent stenosis postoperatively and one patient with severe bilateral ventricular outflow obstruction died.Conclusions Congenital cardiovascular malformations are the common manifestation in patients with infantile Williams syndrome, and supravalvular aortic stenosis and peripheral pulmonary stenosis are the main lesions.Supravalvular aortic stenosis severity often remaines unchanged, whereas most peripheral pulmonary artery stenoses, including severe stenosis, improve spontaneously. Surgical repairs for supravalvular aortic stenosis in Williams syndrome showes favorable results, but there is a possibility of restenosis.更多还原