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近10年来,随着现代分子遗传学的迅速发展,尤其是二代测序技术的出现,对心肌病的遗传学研究取得了巨大进展,发现了多个心肌病相关的致病基因和突变。开展儿童心肌病的基因检测,对心肌病的精准诊断以指导治疗和危险分层管理具有重要意义。与成人心肌病相比,儿童心肌病在病因和临床表现等方面更复杂,如何对测序数据进行分析以识别出真正的致病突变成为新的挑战。
In recent 10 years, with the rapid development of modern molecular genetics, especially the emergence of second-generation sequencing technology, tremendous progress has been made in the genetics study of cardiomyopathy. Several pathogenic genes and mutations associated with cardiomyopathy were found. To carry out genetic testing of children with cardiomyopathy, accurate diagnosis of cardiomyopathy in order to guide treatment and risk stratification management is of great significance. Compared with adult cardiomyopathy, pediatric cardiomyopathy is more complicated in etiology and clinical manifestations, and how to analyze the sequencing data to identify true pathogenic mutations has become a new challenge.