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

Mark Russell, Amy E. Roberts, Dominic J. Abrams, Anne M. Murphy, Jeffrey Towbin, Wendy K. Chung

Research output: Contribution to journalReview article

4 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)3-11
Number of pages9
JournalProgress in Pediatric Cardiology
Volume39
Issue number1
DOIs
StatePublished - Jan 1 2015
Externally publishedYes

Fingerprint

Genetic Testing
Child Care
Cardiomyopathies
Exome
Genes
Genome
Population

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Cardiology and Cardiovascular Medicine

Cite this

How to effectively utilize genetic testing in the care of children with cardiomyopathies. / Russell, Mark; Roberts, Amy E.; Abrams, Dominic J.; Murphy, Anne M.; Towbin, Jeffrey; Chung, Wendy K.

In: Progress in Pediatric Cardiology, Vol. 39, No. 1, 01.01.2015, p. 3-11.

Research output: Contribution to journalReview article

Russell, Mark ; Roberts, Amy E. ; Abrams, Dominic J. ; Murphy, Anne M. ; Towbin, Jeffrey ; Chung, Wendy K. / How to effectively utilize genetic testing in the care of children with cardiomyopathies. In: Progress in Pediatric Cardiology. 2015 ; Vol. 39, No. 1. pp. 3-11.
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