How to effectively utilize genetic testing in the care of children with cardiomyopathies

被引：5

作者：

Russell, Mark ^{[1
]}

Roberts, Amy E. ^{[2
,3
]}

Abrams, Dominic J. ^{[4
]}

Murphy, Anne M. ^{[5
]}

Towbin, Jeffrey A. ^{[6
]}

Chung, Wendy K. ^{[7
,8
]}

机构：

[1] Univ Michigan, Dept Pediat & Communicable Dis, Div Pediat Cardiol, Ann Arbor, MI 48109 USA

[2] Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA USA

[3] Boston Childrens Hosp, Dept Cardiol, Div Genet, Boston, MA USA

[4] Boston Childrens Hosp, Dept Med, Change Div Cardiol, Boston, MA USA

[5] Johns Hopkins Univ, Dept Pediat, Div Cardiol, Baltimore, MD 21218 USA

[6] Cincinnati Childrens Hosp, Med Ctr, Heart Inst, Cincinnati, OH USA

[7] Columbia Univ, Med Ctr, Dept Pediat, New York, NY 10027 USA

[8] Columbia Univ, Med Ctr, Dept Med, New York, NY USA

来源：

PROGRESS IN PEDIATRIC CARDIOLOGY | 2015年 / 39卷 / 01期

关键词：

Genetic; Genetic testing; Pediatric cardiomyopathy;

D O I：

10.1016/j.ppedcard.2015.01.001

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Cardiomyopathy (CM) in children shares some features with cardiomyopathy in adults but also has many important unique features. Heretofore, genetic testing panels, testing strategies, and treatment recommendations have largely been based on studies in adult populations. In general, CMs in children are much more likely to be genetic and to have extracardiac manifestations that should be medically addressed. Therefore, genetic testing in children with CM is an essential part of their initial evaluation and the ongoing care of the child and family. CMs in children are more genetically heterogeneous, and many of the genes that are rare causes of CM in children are not currently included in testing panels, and future genetic testing is likely to increasingly utilize more comprehensive approaches such as whole exome/whole genome sequencing with focused analysis of all the genes that can cause CM in children. (C) 2015 Elsevier Ireland Ltd. All rights reserved.

引用

页码：3 / 11

页数：9

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