Holt-Oram综合征的诊断与治疗:附14例报告

为了探讨Holt-Oram综合征的临床特点和治疗方法,对1990年1月-2000年5月收治的14例患者进行回顾性分析。14例患者的心脏改变均通过心脏超声心动图、心电图、X线胸片诊断,其中10例复杂或复合先心病患儿通过心导管检查确诊;肢体畸形主要靠体检和X线检查。2例在学龄前选取心导管介入治疗,1例重度肺高压患儿在5个月时行外科手术,1例法洛四联症合并缺氧发作患儿在15个月时行根治手术,另有3例在学龄前期行根治手术均获得较好疗效。治疗方案和手术时机的选择主要取决于先心病的严重程度;肢体畸形可以行外科矫形手术。

Diagnosis and treatment of Holt-Oram syndrome:A report of 14 cases

To explore clinical features and therapeutic measures of Holt-Oram syndrome,a retrospective analysis was undertaken in 14 cases with Holt-Oram syndrome during January 1990 to May 2000.The results showed that cardiac changes of all cases were confirmed by echocardiography,electrocardiogram and chest X-ray and 10 cases with complex congenital heart diseases were diagnosed by cardiac catheterization.Limb malformation in these patients was checked out by both of physical examination and X-ray.Interventional-catheterization was undertaken on two preschool children.The surgical ope-ration was performed in a 5-month-old case with severe pulmonary hypertension.The radical operation was taken in a baby with Fallot tetralogy suffered from hypoxia attack when he was 15 months old.Another three children received radical ope-rations at their preschool age,and with satisfactory curative effects.It is suggested that therapeutic scheme and operational age depend on the severe degree of congenital heart disease in children with Holt-Oram syndrome.Orthormorphia can be performed in children with limb malformations.