Williams综合征合并先天性心血管病的外科治疗

Surgical treatment of Williams syndrome combined with cardiovascular disease

目的总结Williams综合征合并心血管病的诊断及治疗经验。方法1996年10月至2003年6月收治8例Williams综合征合并主动脉瓣上狭窄和肺动脉狭窄患者,7例行手术治疗,1例未手术。男6例,女2例,平均6.4岁。局限性主动脉瓣上狭窄3例,弥漫性狭窄5例;2例合并多发肺动脉狭窄。单片法修补加宽主动脉6例,“人”字形补片1例。术前心功能NYHA分级Ⅱ级5例,Ⅲ级3例。结果手术死亡1例,肾功能不全1例,主动脉瓣上血流速度从术前2.9～6.8m/s[平均(4.6±1.1)m/s]降为1.2～3.2m/s[平均(1.7±0.6)m/s],压差从术前42～156mmHg[平均(91±47)mmHg,1mmHg=0.133kPa]降为11～35mmHg[平均(18±10)mmHg]。6例随访16～91个月,心功能NYHA分级Ⅰ级5例,Ⅱ级1例。结论Williams综合征合并主动脉瓣上狭窄手术治疗结果满意,合并周围肺动脉狭窄者手术治疗效果不佳。

Objective To introduce the experience of diagnosis and surgical treatment of Williams syndrome combined with cardiovascular disease. Methods Between October 1996 and June 2003, 8 patients of Williams syndrome with cardiovascular disease were admitted in Fuwai hospital. Seven patients underwent surgical correction. One didn't undergo surgical procedure. There were 6 male and 2 female ranging from 1.5 to 12.0 years old (medium age 6.4). Three had localized type supravalvular aortic stenosis and 5 diffused type supravalvular aortic stenosis. In them, 2 patients were combined with peripheral pulmonary stenosis. Single patch aortoplasty were performed in 6 cases, and inverted bifurcated patch aortoplasty in one patient. Results One patient died and one patient suffered renal insufficiency. In the early postoperative period, the mean speed of flow was reduced to 1.7 m/s from 4.6 m/s, and the mean systolic pressure gradient was reduced from 91 mm Hg to 18 mm Hg. Six patients were followed up 16 to 91 months. There were 5 cases in NYHA function class Ⅰ, and one in class Ⅱ. Conclusion Satisfied result can be achieved in surgical treatment of Williams syndrome with supravalvular aortic stenosis, but it is not in combined with peripheral pulmonary stenosis.