From diagnostic testing to precision medicine: the evolving role of genomics in cardiac channelopathies and cardiomyopathies in children.

Journal Article (Journal Article;Review)

Pediatric sudden cardiac death (SCD) is the sudden unexpected death of a child or adolescent due to a presumed cardiac etiology. Heritable causes of pediatric SCD are predominantly cardiomyopathies and cardiac ion channelopathies. This review illustrates recent advances in determining the genetic cause of established and emerging channelopathies and cardiomyopathies, and how broader genomic sequencing is uncovering complex interactions between genetic architecture and disease manifestation. We discuss innovative models and experimental platforms for resolving the variant of uncertain significance as both the variants and genes associated with disease continue to evolve. Finally, we highlight the growing problem of incidentally identified variants in cardiovascular disease-causing genes and review innovative methods to determining whether these variants may ultimately result in penetrant disease. Overall, we seek to illustrate both the promise and inherent challenges in bridging the traditional role for genetics in diagnosing cardiomyopathies and channelopathies to one of true risk-predictive precision medicine.

Full Text

Duke Authors

Cited Authors

  • Bidzimou, M-TK; Landstrom, AP

Published Date

  • October 2022

Published In

Volume / Issue

  • 76 /

Start / End Page

  • 101978 -

PubMed ID

  • 36058060

Pubmed Central ID

  • PMC9733798

Electronic International Standard Serial Number (EISSN)

  • 1879-0380

Digital Object Identifier (DOI)

  • 10.1016/j.gde.2022.101978


  • eng

Conference Location

  • England