法洛四联症伴肺动脉瓣缺如3例报道并文献复习

目的总结法洛四联症伴肺动脉瓣缺如患儿的临床特点和诊治经验。方法收集复旦大学附属儿科医院2007年11月至2009年2月收治的法洛四联症伴肺动脉瓣缺如3例患儿的临床资料，总结其临床表现、影像学特征 、治疗和预后。结果男1例，女2例，年龄39 d至4个月。临床均表现为气急、咳喘及轻度发绀；体检可闻及胸骨左缘来回杂音。超声心动图和心导管检查除法洛 四联症表现外，可见肺动脉瓣环发育不良或缺如，伴肺动脉重度反流、肺动脉瘤样扩张，均未见动脉导管未闭，其中1例左肺动脉不连接伴发育 不良。2例临床症状严重的患儿施行手术根治，其中1例手术效果满意，另1例左肺动脉不连接伴发育不良患儿术中死亡；1例患儿临床症状尚不 明显，仍在密切随访中。 结论法洛四联症伴肺动脉瓣缺如尽管少见，但由于在婴儿期甚至新生儿期即可引起严重气道受压从而危及生命，临床中遇到难以控制的呼吸窘 迫新生儿和小婴儿应考虑本病的可能。尽早手术根治解除气道受压呼吸困难症状是唯一的治疗方法，无呼吸道受压症状可考虑6个月左右择期手 术。手术病死率高于单纯法洛四联症，尤其是伴一侧肺动脉不连接或发育不良的患儿。

Tetrology of Fallot with absent pulmonary valve: a three-case report and literature review

ObjectiveTo summarize and review the pathophysiology,diagnosis and management of tetralogy of Fallot (TOF) with absent pulmonary valve. MethodsThe clinical data of three cases with tetrology of Fallot with absent pulmonary valve who were diagnosed from Novermber 2007 to February 2009 were summarized,including clinical features,iconography characteristics,treatment and prognosis. ResultsThese 3 patients included 1 boy and 2 girls,aged 39 d,73 d and 4 months respectively.All the cases had symptoms of respiratory distress and variable cyanosis,and physical examinations revealed a to-and-fro murmur at the upper and mid-left sternal borders.Both echocardiography and angiocardiogram showed a large subaortic ventricular septal defect with overriding of the aorta,distally displaced pulmonary annulus with valve stenosis and severe regurgitation,massive aneurysm of the pulmonary trunk and its branches.One patient was with isolated and hypoplastic left pulmonary artery,and none of them was with ductus arteriosus patent.Two patients with severe respiratory distress symptoms received corrective surgery,with good result in one and perioperative death in the other one with isolated and hypoplastic left pulmonary artery.The parents of the other mild symptomatic baby preferred to follow up. ConclusionsThe anomaly of TOF with absent pulmonary valve should be kept in mind when meeting those patients who had repeated and refractory respiratory infection and distress in their early life.Early corrective surgery was the only effective management for those symptomatic patients,and even an asymptomatic child should receive elective surgery in the first 6 months of life.The surgical mortality of them was much higher than that of the isolated TOF patients,especially in those patients with one pulmonary artery hypoplasia or isolated.