The Achilles' heel of cardiovascular genetic testing: distinguishing pathogenic mutations from background genetic noise.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Landstrom, AP; Ackerman, MJ

Published Date

  • October 2011

Published In

Volume / Issue

  • 90 / 4

Start / End Page

  • 496 - 499

PubMed ID

  • 21934721

Pubmed Central ID

  • PMC3495562

Electronic International Standard Serial Number (EISSN)

  • 1532-6535

Digital Object Identifier (DOI)

  • 10.1038/clpt.2011.192


  • eng

Conference Location

  • United States