Toward personalized medicine: Does genetic diagnosis of pediatric cardiomyopathy influence patient management?

Teresa M. Lee, Stephanie M. Ware

Research output: Contribution to journalReview article

2 Scopus citations

Abstract

A goal of personalized medicine is to provide increasingly sophisticated, individualized approaches to management and therapy for disease. Genetics is the engine that drives personalized medicine, holding the promise of therapeutics directed toward the unique needs of each patient. The 3<sup>rd</sup> International Conference on Cardiomyopathy in Children provided a forum to discuss the current status of personalized approaches to diagnosis, management, and therapy in the pediatric cardiomyopathy population. This review will focus on the importance of genetic diagnosis in this population as a necessary first step toward understanding the best approach to management and influencing disease outcome. The genetic heterogeneity of cardiomyopathy in children, the implications of specific genotypes, the ability to risk stratify based on genotype, and the impact on cascade screening in family members will be discussed.

Original languageEnglish (US)
Pages (from-to)43-47
Number of pages5
JournalProgress in Pediatric Cardiology
Volume39
Issue number1
DOIs
StatePublished - Jul 1 2015

Keywords

  • Cascade screening
  • Metabolic
  • Sarcomere
  • Syndrome

ASJC Scopus subject areas

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

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