儿童Marfan综合征的诊断和外科治疗

Management of cardiovascular complications and scoliosis in children with Marfan syndrome

目的 回顾性总结儿童Marfan综合征 (MS)的诊断和心血管并发症、脊柱侧凸的治疗经验和教训。方法 1992年至 2 0 0 2年手术的 2 2例MS患儿采用心血管手术治疗 9例 ,其中 3例在术后又行脊柱侧凸矫正术 ,脊柱手术共 16例。 8例心外术后患儿随访 38～ 10 1个月 ,平均 (6 2 .1±2 1.4 )个月 ,检查方法主要为超声心动图 ,9例脊柱外科患儿术后随访 5～ 32个月 ,平均 (2 0 .7± 10 .5 )个月 ,要求拍摄全胸椎正侧位片。结果 家族史阳性率 6 4 %。根部扩张发生率 78% ,二尖瓣脱垂、反流 4 4 % ,窦部未处理者其根部均有扩张。心血管手术死亡 1例 ,术后随访期间无死亡 ,心功能均为 0～I级 ,生活质量明显改善。脊柱矫治无手术和术后死亡 ,术后脊柱侧凸角平均剩余 (2 4 .3± 15 .5 0 )°(4°～ 4 0°) ,平均矫正率 6 9.31% (4 5 .0 0 %～ 93.71% ) ,9例随访患儿的矫正率平均丢失 6 .8% (11.4 %～ 3.5 % )。结论 应重视成人患者子女的检查 ;手术指征依次为根部扩张、脊柱侧凸和二尖瓣反流 ;在处理主动脉根部扩张时不能旷置窦部 ;二尖瓣反流是心力衰竭的主要原因 ;脊柱Scofix器械矫正及植骨融合术效果理想 ,但术前应仔细评估和处理心血管病变 ;超声心动图在诊断和处理中非常重要。

Objective The diagnosis and optimal treatment of severe cardiovascular complications and scoliosis in children with Marfan's syndrome (MS) remains controversial. The management is herewith reviewed.Methods From February 1992 to the end of 2002, the clinical records, echocardiographic and radiographic features of 22 consecutive children under 14 years of age with the MS who underwent cardiovascular and spine operative repair reviewed. Nine patients with cardiac lesions including aortic root dilatation and mitral regurgitation deteriorated rapidly. 3 of them had severe scoliosis. The cardiac procedures performed include Robicsek's, modified Wheat's, Mitral valve repair and replacement, double valve replacement, ascending aortic wrapping and graft replacement. The preoperative curve of 16 with scoliosis ranged from 40～104°(mean 78.3± 19.6°).Results Familial history is present in 64% of patients. One patient died during the perioperative period of cardiac operation. Eight survivors were followed-up with echocardiography, from 38 months to 101 months (mean follow-up, 62.1 months). There was no late death. Of 9 patients, aortic root dilation was found 78%, MVP and MR 44%. Dilatation occurred in all whose Valsava sinus was untreated, and medium to severe AI developed in one with ascending aortic graft replacement. A redo Bentall a composite graft replacement was performed in one with modified Wheat procedure because of severe distal and proximal aortic dilation 4 years later. No obvious aortic root dilation was found in the 3 with Robicsek procedure. Spine fusion combined with Scofix rod insertion was applied in 16 patients. There was no operative death. Only nine were available for follow-up with radiography. The postoperative Cobb curve remained 24.3( 15.50°±4～40°) in the period of 5 months to 32 months (mean follow-up, 20.7± 10.5 months). Mean correction rate was 69.3%( 45.0～ 93.7%), and lost 6.8%( 11.4～ 3.5%).Conclusions Early diagnosis can be achieved in those with familial history. The most common surgical indication are aortic root dilation, scoliosis and MI. In the treatment of aortic root dilation, the root plastic procedure with aortic valve sparing or replacement is the first choice, and Valsalva sinus must not be left untreated. MVP is common and MR, which may require valve replacement, is the leading cause of congestive heart failure in childhood. We recommend spine fusion combined with Scofix rod. The role of echocardiography is emphasized.