The achilles heel of cardiovascular genetic testing: Distinguishing pathogenic mutations from background genetic noise

A. P. Landstrom, M. J. Ackerman

Research output: Contribution to journalReview articlepeer-review

18 Scopus citations

Abstract

Although the etiologies of sudden cardiac death (SCD) are diverse, genetic mutations associated with cardiomyopathic and channelopathic diseases are major causes, and clinically available genetic tests offer the potential to identify at-risk family members, contribute to risk stratification, and guide therapeutic intervention. Recently, the first large-scale systematic studies exploring the background genetic noise rate of these tests have been conducted and offer guidance in interpreting positive genetic test results.

Original languageEnglish (US)
Pages (from-to)496-499
Number of pages4
JournalClinical pharmacology and therapeutics
Volume90
Issue number4
DOIs
StatePublished - Oct 2011

ASJC Scopus subject areas

  • Pharmacology
  • Pharmacology (medical)

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