Genetic Basis of Childhood Cardiomyopathy
Genetic Basis of Childhood Cardiomyopathy
复制标题
DOI：
10.1161/circgen.121.003686
复制
发表时间：
2022-12-01
影响因子：
7.4
通讯作者：
Semsarian, Christopher
中科院分区：
文献类型：
--
作者：
Bagnall, Richard D.;Singer, Emma S.;Semsarian, Christopher
背景：儿童心肌病的病因比成人心肌病的病因描述得更少。我们评估了儿童心肌病的临床诊断和遗传原因以及家族成员级联基因检测的结果。方法：我们从儿科心脏病服务或遗传性心脏病诊所招募儿童。我们进行了桑格，基因面板，外显子组或基因组测序和分类变异的致病性使用美国分子遗传学和基因组学学院的指导方针。结果：221例年龄在10岁以下的无血缘关系儿童中诊断为心肌病，
Background:The causes of cardiomyopathy in children are less well described than in adults. We evaluated the clinical diagnoses and genetic causes of childhood cardiomyopathy and outcomes of cascade genetic testing in family members. Methods:We recruited children from a pediatric cardiology service or genetic heart diseases clinic. We performed Sanger, gene panel, exome or genome sequencing and classified variants for pathogenicity using American College of Molecular Genetics and Genomics guidelines. Results:Cardiomyopathy was diagnosed in 221 unrelated children aged