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

Publication ,  Journal Article
Bidzimou, M-TK; Landstrom, AP
Published in: Curr Opin Genet Dev
October 2022

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.

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Published In

Curr Opin Genet Dev

DOI

EISSN

1879-0380

Publication Date

October 2022

Volume

76

Start / End Page

101978

Location

England

Related Subject Headings

  • Precision Medicine
  • Humans
  • Genomics
  • Genetic Testing
  • Diagnostic Techniques and Procedures
  • Developmental Biology
  • Death, Sudden, Cardiac
  • Child
  • Channelopathies
  • Cardiomyopathies
 

Citation

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ICMJE
MLA
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Bidzimou, M.-T., & Landstrom, A. P. (2022). From diagnostic testing to precision medicine: the evolving role of genomics in cardiac channelopathies and cardiomyopathies in children. Curr Opin Genet Dev, 76, 101978. https://doi.org/10.1016/j.gde.2022.101978
Bidzimou, Minu-Tshyeto K., and Andrew P. Landstrom. “From diagnostic testing to precision medicine: the evolving role of genomics in cardiac channelopathies and cardiomyopathies in children.Curr Opin Genet Dev 76 (October 2022): 101978. https://doi.org/10.1016/j.gde.2022.101978.
Bidzimou, Minu-Tshyeto K., and Andrew P. Landstrom. “From diagnostic testing to precision medicine: the evolving role of genomics in cardiac channelopathies and cardiomyopathies in children.Curr Opin Genet Dev, vol. 76, Oct. 2022, p. 101978. Pubmed, doi:10.1016/j.gde.2022.101978.
Journal cover image

Published In

Curr Opin Genet Dev

DOI

EISSN

1879-0380

Publication Date

October 2022

Volume

76

Start / End Page

101978

Location

England

Related Subject Headings

  • Precision Medicine
  • Humans
  • Genomics
  • Genetic Testing
  • Diagnostic Techniques and Procedures
  • Developmental Biology
  • Death, Sudden, Cardiac
  • Child
  • Channelopathies
  • Cardiomyopathies