原发性心内膜弹力纤维增生症75例远期疗效

A long-term follow-up study on the clinical treatment of 75 cases with primary endocardial fibroelastosis

目的 总结分析心内膜弹力纤维增生症（EFE）患儿治疗后的临床效果及转归,分析不同治疗方法在改善预后中的作用.方法 回顾性分析1984年8月至2006年6月曾在首都医科大学附属北京安贞医院小儿脏科住院的75例特发性婴幼儿EFE临床及随访资料.结果 本组男40例,女35例,发病年龄20 d～2岁8个月,出院后继续门诊规律治疗及随访69例,随访率92%,门诊随访时间6个月～23年（平均5.7年）.随访过程中6例（8.7%）死亡.治愈率46.4%（32/69）,好转率40.6%（28/69）,总治愈好转率87.0%.全组治疗2年左室射血分数（EF）（55.86%±2.85%）恢复正常,治疗后1、3、5、10年左室EF正常率分别为42.6%（26/61）、64.4%（29/45）、70.7%（29/41）和84.6%（22/26）.治疗3年胸部X线心胸比例（C/T）（0.50±0.01）恢复正常.治疗3年左室舒张末径（LVDD）平均值未恢复正常,治疗后1、3、5、10年正常率分别为0%（0/61）、13.3%（6/45）、53.7%（22/41）和84.6%（22/26）.EFE患儿首诊评分〈22分37例（糖皮质激素组）,治疗1年左室EF平均值恢复正常（EF值58.44%±5.10%）,治疗2年胸部X线C/T平均值恢复正常（0.50±0.00）.EFE患儿首诊评分≥22分29例（糖皮质激素＋环磷酰胺组）,治疗3年左室EF平均值恢复正常（57.33%±3.43%）,治疗3年C/T、LVDD平均值未恢复正常.加用IVIG使应用环磷酰胺治疗病例的百分比下降,选择年龄相当左室EF≤40%的IVIG组21例及非IVIG组19例,临床需加用环磷酰胺的病例分别为7例（33.3%）及11例（57.9%）.EFE心内膜厚度恢复正常较慢,平均4年（1～8年）.治疗后1、3、5、8年心内膜恢复正常率分别为9.8%（6/61）、22.2%（10/45）、51.2%（21/41）及100%（29/29）.结论 对EFE患儿长期规范不间断治疗至痊愈的远期效果良好.重症及难治性EFE需加强免疫治疗,维持治疗时间亦较长.临床治愈的患儿停药后仍应限制活动量并定时复查,及时发现心功能的变化并给予及时治疗可改善远期效果.

Objective To summarize and analyze the effects of treatment and prognosis of infants with endocardial fibroelastosis （EFE） in different states of the illness undergone relevant therapies, and to understand the roles of different treatments for improving the prognosis of the disease . Methods Data of 75 cases with EFE admitted into Anzhen Hospital Affiliated to Capital Medical University from August 1984 to June 2006 were analyzed retrospectively. Results （1） Of the 75 cases with EFE （40 males and 35 females） , with the onset age ranged from 20-days to two years and eight months, 69 cases were treated normally and followed up in the Outpatient Department of the Hospital after discharge, the follow-up rate was 92% , with the follow-up span from six months to 23 years （5.7 years in average）. During the follow-up, six cases （8.1% ） died. （2） The total curative rate of EFE patients was 46.4% （32/69 ）, while the improvement rate was 40. 6% （28/69）, the total rate of the cure and improvement was 87% . （3） The average value of ejection fraction （EF） of left ventricle of all the patients returned to normal two years after treatment （EF value was 55. 86 ±2. 85）, the percentage of patients with normal left ventricle EF at 1 year, 3 years, 5 years and 10 years after treatment was 42. 6% （26/61） , 64.4% （29/45 ） , 70.1% （29/41） and 84. 6% （22/26）, respectively. The average value of cardiothoracic （C/T） ratio became normal three years after treatment through X ray examination （0. 50 ±0. 01） , however the average value of the LVDD had not been returned to normal 3 years after treatment At 1 year, 3 years, 5 years and 10 yeare after treatment, the proportion of patients with normal LVDD was 0% （0/61）, 13. 3% （6/45） , 53. 7% （22/41） and 84. 6% （22/26） , respectively. （4） The average value of EF became normal one year after treatment in the glucocorticoid group （EF value 58.44 ±5. 10） in 37cases scored 〈22 at the first visit, while the average value of C/T normalized two years after treatment （0. 50 ± 0. 00）; The average value of EF became normal three yeare after treatment in the glucocorticoid plus cyclophosphamide group （EF 57. 33 ± 3.43） in 29 cases scored 〈 22 at the first visit, however the average value of the C/T and the LVDD did not return to normal 3 years after treatment （5） Use of IVIG reduced the percentage of patients who received cyclophosphamide. （6） The recovery of intimal thickness was slow in EFE patients, the span was four years on the average （1-8 years）, the percentage of patients whose endocardium became normal 1 year, 3 years, 5 years and 10 yeare after treatment was 9. 85% （6/61）, 22. 2% （10/45 ）, 51. 2% （21/41）, 100% （29/29）. Conclusion The long-term continuous normal treatment of patients with EFE showed good therapeutic effects. For severe and refractory cases, immunotherapy must be strengthened and maintained for longer time. For those who clinically recovered, the quantity of activity should be restricted after the treatment is discontinued, and the re-examination should be done timely for further management.