儿童扩张型心肌病的临床特点及1例家族性病儿的基因突变分析  

CLINICAL FEATURES OF DILATED CARDIOMYOPATHY IN CHILDREN AND A GENE MUTATION ANALYSIS OF ONE CHILD WITH FAMILIAL DILATED CARDIOMYOPATHY

作　　者：罗柳 庞玉生[1] LUO Liu;PANG Yusheng(Department of Pediatric,First Affiliated Hospital of Guangxi Medical University,Nanning 530021,China)

机构地区：[1]广西医科大学第一附属医院儿科,广西南宁530021

出　　处：《精准医学杂志》2018年第4期324-327,332,共5页Journal of Precision Medicine

摘　　要：目的探讨扩张型心肌病(DCM)病儿临床特点及家族性DCM(FDCM)基因突变特点。方法回顾性分析2006年1月—2016年1月于我院住院的49例DCM病儿的临床资料,同时采用Kaplan-Meier法进行生存分析;并分析1例FDCM的基因突变特点。结果 49例DCM病儿中男22例,女27例;年龄<1岁者4例,1~5岁者13例,>5岁者32例;主要症状以及体征为咳嗽、气促、乏力、肝脏增大以及心音低钝,心胸比增大者40例(81.6%)。NYHA心功能分级Ⅲ级以上或Ross评分7分以上者21例(42.9%),29例(59.2%)合并呼吸道感染,无栓塞事件。随访32例,随访时间1~131个月,平均29.25个月,其中死亡13例,5例规律服用强心和利尿药半年~1年后停药,至随访时生活质量可,无明显运动受限;14例坚持规律用药2~5年,日常活动无明显影响。13例死亡病儿均因心力衰竭进行性加重而死亡,无猝死和心脏移植者。DCM病儿1、3和5年生存率分别为68.2%、54.4%和54.4%。1例FDCM病儿基因检测发现DMD c.2473T>G(p.Trp825Gly)突变,为错义突变。结论 DCM以年长儿发病为主,远期预后不良,规范治疗能改善病儿的症状,提高生活质量;DMD c.2473T>G(p.Trp825Gly)有可能为FDCM病儿的致病突变。Objective To investigate the clinical features of dilated cardiomyopathy （DCM） and gene mutations of familial DCM. Methods A retrospective analysis was performed for the clinical data of 49 children with DCM who were admitted to our hospital from January 2006 to January 2016. The Kaplan-Meier method was used for survival analysis, and gene mutations of one child with familial DCM were analyzed. Results Of all 49 children with DCM, there were 22 boys and 27 girls; 4 were aged 〈 1 year ,13 were aged 1-5 years, and 32 were aged 〉5 years. Major symptoms and signs included cough, shortness of breath, weakness, liver enlargement, and muffled heart sound, and of all children, 40（81.6%） had an increase in cardiothoracic ratio. Of all 49 children, 21（42.9%） had NYHA functional class Ⅲ or above or Ross score ≥7, and 29（59.2%） had respiratory infection; no embolic event was observed. A total of 32 children were followed up for 1-131 months, with a mean follow-up time of 29.25 months, and among these children,13 died; 5 were given regular administration of cardiotonic drugs and diuretics for half a year to one year and had good quality of life at the end of follow-up, with little movement limitation; 14 adhered to regular administration for 2- 5 years and had no significant influence on daily activities. All 13 children died of progressive exacerbation of heart failure, and there were no cases of sudden death or heart transplantation. The 1-,3-, and 5-year survival rates of children with DCM were 68.2% , 54.4% , and 54.4%, respectively. One child with familial DCM was found to have a missense mutation of DMD, c.2473T〉 G （p.Trp825Gly）. Conclusion DCM is often observed in older children and has poor long-term prognosis. Standardized treatment can improve children’s symptoms and quality of life. DMD c.2473T〉G （p.Trp825Gly） may be a pathogenic mutation in children with familial DCM.

关 键 词：心肌病 扩张型 体征和症状 突变 基因检测 儿童 

分 类 号：R725.422[医药卫生—儿科]