Genetic diagnosis in pediatric cardiomyopathy: Clinical application and research perspectives

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

There has been tremendous growth in the application of genetics to the clinical practice of pediatric cardiomyopathy. The identification of the genetic basis for cardiomyopathies is important for establishing a causal diagnosis, providing definitive identification of at risk family members, and providing cost-effective screening and surveillance. Additional research is needed to better understand the genetic heterogeneity of cardiomyopathy in children, the implications of specific genotypes, the best approach to cardiac surveillance and genetic testing, and the utility of genotyping for individual risk stratification. As the technology for evaluation of the human genome continues to improve, there is an increasing need for assessment of clinical relevance and utility. This is coupled with an ongoing need for education and training of professionals to interpret and implement genomics in a clinical setting.

Original languageEnglish (US)
Pages (from-to)99-102
Number of pages4
JournalProgress in Pediatric Cardiology
Volume31
Issue number2
DOIs
StatePublished - May 1 2011
Externally publishedYes

Keywords

  • Cardiomyopathy
  • Genetic testing
  • Mutation
  • Pediatric
  • Sequencing

ASJC Scopus subject areas

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

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