目的 回顾性分析医院诊治的原发性心肌病,探讨其临床特点及影响预后的相关因素。方法 对1997-01至2016-12我院收治的125例原发性心肌病患儿的临床表现、辅助检查(实验室检查、胸片、心电图、超声心动图等)等资料进行回顾性分析,同时对2007—2016年收治的扩张型心肌病(dilated cardiomyopathy, DCM)患儿进行随访,分析影响DCM预后的相关因素。结果 125例原发性心肌病中, 1岁以内发病73例(58.4%),限制型心肌病(restrictivecardiomyopathy,RCM)见于1岁以上患儿。DCM、左室致密化不全(noncompaction of ventricular myocardium, NVM)、肥厚型心肌病(hypertrophic cardiomyopathy, HCM)患儿多数有心脏、肺部病理性体征,常合并肝大;RCM主要表现为右心力衰竭导致的体循环淤血的系列临床表现。DCM、NVM超声心电图的结果显示LVEDD-Z明显增高,RCM的LAD-Z最大,其次DCM、NVM,而HCM的LAD-Z减小,DCM、NVM、EFE的EF-Z、FS明显降低,HCM、RCM的EF-Z、FS未见明显降低。随访近十年19例DCM,死亡患儿发病年龄、死亡年龄、疾病病程中位数分别是60.3个月、63.8个月和8.0个月,主要死因是顽固性心力衰竭及恶性心律失常。结论 DCM是最常见的心肌病类型;好发年龄是1岁以内,男多于女;cTnI、NT-proBNP、LVEDD-Z增加;顽固性心力衰竭及恶性心律失常是主要死因。

Objective To retrospectively analyze the clinical characteristics of children with primary cardiomyopathy.Methods A retrospective study was carried out in 125 pediatric patients with primary cardiomyopathy who had been admitted to Children’s Hospital of Fudan University between January 1,1997 and December 31,2016.Alltheir clinical manifestations, results of laboratory examinations (laboratory tests,chest X-ray,ECG, echocardiography,etc.) and other information were retrospectively analyzed.Nineteen patients with DCM who had been admitted between 2007 and 2016 were followed-up to analyze their prognostic implications.Results Dilated cardiomyopathy (DCM) was the most common type of cardiomyopathy. Seventy-three of these cases(58.4%)were infants, and RCM mostly occurred in children over 1 year old. Children with DCM,NVM and HCM presented cardiac signs, pulmonary signs and hepatomegaly, while RCM patients mainly presented clinical manifestations due to right heart failure. As compared with normal, DCM and NVM patients showed significantly higher LVEDD-Z.LAD-Z was the largest in RCM patients, followed by that of DCM and NVM patients. LAD-Z decreased in patients of HCM. EF-Z and FS were significantly reduced in patients with DCM, NVM or EFE, but did not change significantly in HCM or RCM patients. Children with DCM hospitalized between 2007 and 2016 were followed up. The median age, age at death and disease duration were respectively 60.3 months, 63.8 months and 8.0 months in dead children. The cause of death was mainly refractory heart failure and malignant arrhythmias. Univariate analysis showed that increased cTnI was a prognostic factor, while NT-proBNP and LVEDD-Z could affect the prognosis of DCM.Conclusions The most common type of primary cardiomyopathy in our study is DCM. Cardiomyopathy mainly strikes infants under one year old, and boys are more vulnerable than girls.The level of cTnI is a prognostic factor of DCM, and NT-proBNP and LVEDD-Z may be prognostic factors as well. Refractory heart failure and malignant arrhythmia are possibly the main cause of death in DCM.