儿童原发性扩张型心肌病177例的临床特征及生存分析:病例系列报告OA

Background Dilated cardiomyopathy(DCM)is one of the leading causes of heart failure in children,characterized by rapid disease progression and significant variability in clinical outcomes.The long-term survival rate for pediatric DCM remains poor,and large-sample,long-term follow-up studies are lacking in China.Objective To investigate the clinical characteristics,prognosis,and influencing factors of primary DCM in children,and to provide evidence for its clinical diagnosis,treatment,and prognosis assessment.Design Case series report.Methods This study included pediatric patients diagnosed with primary DCM admitted to Children's Hospital of Fudan University from January 2008 to June 2024,with follow-up until September 30,2024.The outcomes were classified as follows.Improvement:heart function improvement or an increase in left ventricular ejection fraction(LVEF)≥10%;stable:no change in heart function and LVEF fluctuation<10%;deterioration:heart function decline or LVEF decrease≥10%;death or transplantation:death or heart transplantation during follow-up.Heart function changes and LVEF were compared between the last follow-up and first diagnosis.The LVEF data were based on echocardiography(Echo)results.In the analysis of Echo indicators and treatment medications,patients were divided into good prognosis(improvement/stable)and poor prognosis(deterioration/death or transplantation)groups.Demographic data,clinical manifestations,laboratory and imaging results,and follow-up outcomes were collected.Kaplan-Meier survival curves were drawn to compare survival rates between groups,and Cox proportional hazards regression models were used to identify prognostic risk factors.ROC curves were used to evaluate the predictive performance of various indicators.Main Outcome Measures A composite endpoint of death or heart transplantation.Results A total of 177 children were included,with 91 males(51.4%)and 86 females(48.6%).The median age at diagnosis was 11 months(range from 4.0 to 71.5 months),and 96 children(54.2%)were≤1 year old.The follow-up outcomes were as follows:77(43.5%)improved,37(20.9%)remained stable,14(7.9%)deteriorated,and 49(27.7%)underwent death or heart transplantation.N-terminal pro-B-type natriuretic peptide(NT-proBNP)levels differed significantly across prognostic groups(P<0.001),being highest in the death or transplant group.Echo results showed that the LVEF in the poor prognosis group was significantly lower than in the good prognosis group[(38.86±10.89)%vs.(42.65±12.31)%,P=0.048].Cardiac magnetic resonance(CMR)results revealed that left ventricular end-diastolic volume index(LVEDVI)and left ventricular end-systolic volume index(LVESVI)were significantly higher in the death or transplantation group compared to the improvement group(P=0.005 and P=0.008,respectively).Echo and CMR measurements of LVEF showed a significant positive correlation(r=0.532,P<0.001),but the consistency was poor(95%limits of agreement:-14.87%to 30.21%).The median follow-up time was 23(2.5,74.0)months,with Kaplan-Meier survival rates of 78.0%at 1 year,72.3%at 3 years,70.1%at 5 years,and 54.0%at 11 years.CMR-measured LVEDVI was an independent risk factor for death or heart transplantation in DCM children(HR=1.104,95%CI:1.001-1.217,P<0.05).ROC curve indicated that the combined NT-proBNP and LVEDVI model yielded an AUC of 0.779(95%CI:0.638-0.920,P<0.001),with 94.1%sensitivity and 58.6%specificity.The risk stratification based on this model showed that the survival rate of the high-risk group within one year was significantly lower than that of the low-risk group(P=0.002),and the risk of experiencing the primary endpoint event(death or heart transplantation)within one year was significantly higher in the high-risk group(HR=12.54,95%CI:1.66-94.70,P=0.014).Conclusion Pediatric primary DCM predominantly presents in infants and young children,with a generally poor prognosis.CMR-measured LVEDVI was an independent risk factor for death or heart transplantation in pediatric DCM.The combined prediction model of NT-proBNP and LVEDVI can effectively identify high-risk children and has potential clinical value for screening.Clinicians should be aware of potential differences in LVEF measurements obtained using different imaging methods when assessing left ventricular function.