摘要
目的 探讨TTN基因变异相关儿童扩张型心肌病(DCM)的临床表型与基因型特点.方法 回顾性分析2019年8月至2023年2月河北省儿童医院心内科诊治的4例TTN基因变异致DCM患儿的资料,总结其临床特征、基因测序和随访结果.结果 4例中男2例,女2例,均携带TTN基因变异,1例是复合杂合变异.共检测到5种变异位点,涉及4种变异类型,其中2种变异位点(c.40172-1G＞C,c.58684G＞C)在国内外均未见报道.4例DCM患儿中2例以咳嗽、呼吸急促等呼吸道症状表现为主,2例以腹痛、恶心、呕吐等消化道症状起病,4例患儿的心脏超声显示左心室射血分数和左心室短轴缩短率均有异常.中位随访时长4个月(范围:11～23个月),2例在随访期间因心功能不全死亡,2例存活且心功能改善.结论 文章报道了 TTN基因的5种变异位点,进一步扩大了儿童DCM的基因变异谱.研究TTN基因所致儿童DCM基因型-表型的关系有助于预测患儿的预后及协助变异基因的致病分类.
Abstract
Objective In this study,we sought to examine the clinical phenotypic and genotypic characteristics of pe-diatric dilated cardiomyopathy(DCM)associated with TTN gene variants.Methods A retrospective analysis was performed on data obtained from four pediatric patients with DCM caused by TTN variants,who were treated at the Department of Cardiol-ogy,Hebei Children's Hospital,from August 2019 to February 2023.The clinical features,gene sequencing data,and fol-low-up outcomes of the four patients are summarized.Results These patients comprised two males and two females,all of whom carried TTN variants,with one being characterized by a compound heterozygous variant.In total,we detected five variant loci associated with four variant types,two of which(c.40172-1G＞C and c.58684G＞C)have not been reported previ-ously.Among the four DCM patients,two presented with respiratory symptoms,including a cough and shortness of breath,and two had gastrointestinal symptoms,including abdominal pain,nausea,and vomiting.Echocardiography of the patients re-vealed abnormalities in the left ventricular ejection fraction and left ventricular fractional shortening.The median length of follow-up was 4 months(range:11-23 months),during which time,two of the patients died as a consequence of cardiac insuf-ficiency,whereas the remaining two survived with improved cardiac function.Conclusion This report of five variant loci in the TTN gene has contributed to further broadening the spectrum of genetic variants in pediatric DCM.Studies of the geno-type-phenotype relationship of pediatric DCM caused by the TTN gene can facilitate the prediction of patient prognosis and contribute to the classification of variant gene pathogenicity.
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