儿童原发性扩张型心肌病的临床特征及遗传学分析

Clinical and genetic characteristics of children with primary dilated cardiomyopathy

摘要:

目的 分析儿童原发性扩张型心肌病（dilated cardiomyopathy，DCM）的遗传学特点、临床特征及预后。 方法 回顾性分析2018年7月—2023年2月河北省儿童医院确诊的44例DCM患儿的病例资料。根据基因检测结果分为基因突变阳性组（17例）和基因突变阴性组（27例），分析两组患儿首诊时临床资料及随访情况。 结果 44例DCM患儿中，男性21例（48%），女性23例（52%）；首诊以咳嗽、气促等呼吸道症状最常见（34%，15/44）。基因突变检出率为39%（17/44）。两组患儿首诊时临床特征、心功能分级Ⅲ~Ⅳ级比例，以及首诊时脑钠肽、左心室射血分数、左心室短轴缩短率等比较差异均无统计学意义（P>0.05）。中位随访时间23个月，死亡9例（20%），其中基因突变阳性组死亡8例，包括3例TTN基因、2例LMNA基因、2例TAZ基因和1例ATAD3A基因突变患儿。基因突变阳性组患儿病死率高于基因突变阴性组（P<0.05）。 结论 儿童DCM首诊时的严重程度与致病基因突变无相关性，但基因突变阳性患儿预后相对更差。

Abstract:

Abstract：Objective To study the genetic characteristics, clinical characteristics, and prognosis of children with primary dilated cardiomyopathy (DCM). Methods A retrospective analysis was performed on the medical data of 44 children who were diagnosed with DCM in Hebei Children's Hospital from July 2018 to February 2023. According to the genetic testing results, they were divided into two groups: gene mutation-positive group (n=17) and gene mutation-negative group (n=27). The two groups were compared in terms of clinical data at initial diagnosis and follow-up data. Results Among the 44 children with DCM, there were 21 boys (48%) and 23 girls (52%). Respiratory symptoms including cough and shortness of breath were the most common symptom at initial diagnosis (34%, 15/44). The detection rate of gene mutations was 39% (17/44). There were no significant differences between the two groups in clinical characteristics, proportion of children with cardiac function grade Ⅲ or Ⅳ, brain natriuretic peptide levels, left ventricular ejection fraction, and left ventricular fractional shortening at initial diagnosis (P>0.05). The median follow-up time was 23 months, and 9 children (20%) died, including 8 children from the gene mutation-positive group, among whom 3 had TTN gene mutation, 2 had LMNA gene mutation, 2 had TAZ gene mutation, and 1 had ATAD3A gene mutation. The gene mutation-positive group had a significantly higher mortality rate than the gene mutation-negative group (P<0.05). Conclusions There is no correlation between the severity of DCM at initial diagnosis and gene mutations in children. However, children with gene mutations may have a poorer prognosis.