儿童隐匿性家族性心肌病：基因检测的作用。
Hidden familial cardiomyopathies in children: Role of genetic testing.
机构信息
Cardiology Unit, Meyer Children's Hospital, Florence, Italy.
Cardiology Unit, Meyer Children's Hospital, Florence, Italy.
出版信息
Int J Cardiol. 2021 Oct 1;340:55-58. doi: 10.1016/j.ijcard.2021.08.014. Epub 2021 Aug 9.
PMID:34384838
Abstract
Pediatric cardiomyopathies harbour significant phenotypic and genetic heterogeneity. Genetic testing is essential for the initial evaluation and the ongoing care of child and family, although challenges remain regarding its appropriate clinical implementation in minors. We here discuss the key role of genetic diagnosis in the clinical management of two patients.
摘要
儿科心肌病具有显著的表型和遗传异质性。基因检测对于儿童和家庭的初始评估和持续护理至关重要，尽管在未成年人中适当实施基因检测仍然存在挑战。我们在这里讨论了基因诊断在两名患者临床管理中的关键作用。
Zotero 插件