Ware Stephanie M
Departments of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Curr Opin Pediatr. 2017 Oct;29(5):534-540. doi: 10.1097/MOP.0000000000000533.
Paediatric cardiomyopathy is a rare disease with a genetic basis. The purpose of this review is to discuss the current status of genetic findings in the paediatric cardiomyopathy population and present recent progress in utilizing this information for management and therapy.
With increased clinical genetic testing, an understanding of the genetic causes of cardiomyopathy is improving and novel causes are identified at a rapid rate. Recent progress in identifying the scope of genetic variation in large population datasets has led to reassessment and refinement of our understanding of the significance of rare genetic variation. As a result, the stringency of variant interpretation has increased, at times leading to revision of previous mutation results. Transcriptome and epigenome studies are elucidating important pathways for disease progression and highlight similarities and differences in pathogenesis from adult cardiomyopathy. Therapy targeted towards the underlying cause of cardiomyopathy is emerging for a number of rare syndromes such as Pompe and Noonan syndromes, and genome editing and induced pluripotent stem cells provide promise for additional precision medicine approaches.
Genetics is moving at a rapid pace in paediatric cardiomyopathy. Genetic testing is increasingly being incorporated into clinical care. Although interpretation of rare genetic variation remains challenging, the opportunity to provide management and therapy targeted towards the underlying genetic cause is beginning to be realized.
小儿心肌病是一种具有遗传基础的罕见疾病。本综述的目的是讨论小儿心肌病群体中基因研究结果的现状，并介绍在利用这些信息进行管理和治疗方面的最新进展。
随着临床基因检测的增加，对心肌病遗传原因的认识正在提高，并且新的病因正以很快的速度被发现。在识别大型人群数据集中基因变异范围方面的最新进展，促使我们对罕见基因变异的重要性进行重新评估和细化理解。因此，变异解读的严格性有所提高，有时会导致对先前突变结果的修正。转录组和表观基因组研究正在阐明疾病进展的重要途径，并突出与成人心肌病在发病机制上的异同。针对一些罕见综合征（如庞贝氏症和努南综合征）的心肌病潜在病因的治疗正在出现，基因组编辑和诱导多能干细胞为更多精准医学方法带来了希望。
在小儿心肌病领域，遗传学发展迅速。基因检测越来越多地被纳入临床护理。尽管对罕见基因变异的解读仍然具有挑战性，但针对潜在遗传病因进行管理和治疗的机会已开始显现。
