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心肌致密化不全是儿童三大心肌病类型之一,随着对此疾病的认识,目前临床诊断的患儿数量也在增加.儿童心肌致密化不全的临床表现差异很大,可以完全没有临床症状,也可以表现为严重的心功能不全.该文综述了儿童心肌致密化不全的临床特点、不同年龄段患儿的长期预后.随着下一代测序技术的开展,越来越多的导致心肌致密化不全的基因突变被发现.该文介绍了儿童心肌致密化不全基因型与临床表现型相关性研究.心肌致密化不全长期预后不良,目前大量测序研究结果显示家系筛查的重要性.对于携带致病基因的患儿,即使没有临床症状也要定期随访.“,”Noncompation of the ventricular myocardium is one of three major types of cardiomyopathy in children.More patients are diagnosed,with the understanding of this cardiomyopathy.Their clinical manifestation may vary a lot from without symptoms to severe cardiac dysfunction.This article describes the clinical characteristics of left ventricular noncompaction(LVNC) children and long-term prognosis of children at different ages.With the development of next-generation sequencing technology,more and more gene mutations have been found to cause LVNC.The article introduces the relationship between genotypes and clinical phenotypes in children.LVNC has poor long-term prognosis.At present,studies have showed the importance of family screening.For children carrying pathogenic genes mutations,they should be followed-up regularly even without clinical symptoms.