儿童心肌致密化不全6例临床表现及基因变异分析

Clinical manifestations and gene mutation analysis of children with noncompaction of the ventricular myocardium: an analysis of 6 cases

摘要:

该文总结分析儿童心肌致密化不全（NVM）的临床和基因变异特点。6例NVM患儿起病年龄3个月至12岁，男4例，女2例，心律失常5例，心功能不全3例，精神差1例，胸闷、叹气1例。4例患儿检测到NVM相关基因变异，其中MYH7基因变异2例，PRDM16基因变异1例，ACTN2基因+TNNT2基因变异1例。心功能改善4例；2例患儿心功能改善不明显，其发病年龄小，超声心动图示收缩功能降低更明显，心肌酶、氨基末端脑钠肽前体升高更明显。NVM是引起儿童慢性心力衰竭的重要原因之一，对于首发有胸闷、叹气、心律失常、心影增大、心肌酶增高明显的患儿，进行超声心动图、心脏磁共振检查，可确诊NVM，NVM可有多种基因变异。

Abstract:

This article summarizes and analyzes the clinical features and gene mutation characteristics of children with noncompaction of the ventricular myocardium (NVM). For the 6 children with NVM (4 boys and 2 girls), the age of onset ranged from 3 months to 12 years. Of the 6 children, 5 had arrhythmia, 3 had cardiac insufficiency, 1 had poor mental state, and 1 had chest distress and sighing. NVM-related gene mutations were detected in 4 children, among whom 2 had MYH7 gene mutation, 1 had PRDM16 gene mutation, and 1 had mutations in the ACTN2 and TNNT2 genes. Four children had improvement in cardiac function. The two children with no significant improvement in cardiac function had a younger age of onset, a greater reduction in systolic function on echocardiography, and greater increases in myocardial enzyme and N-terminal pro-brain natriuretic peptide. It is concluded that for children with the initial symptoms of chest distress, sighing, arrhythmia, enlarged heart shadow, and increased myocardial enzyme, echocardiography and cardiac magnetic resonance are recommended for the diagnosis of NVM. NVM can have various genetic mutations.