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Molecular genetic mechanisms of dilated cardiomyopathy

John Travis Hinson1

  • 1Cardiology Center, UConn Health, Farmington, CT 06030, USA; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.

Current Opinion in Genetics & Development
|July 23, 2022
PubMed

Insights

Dilated cardiomyopathy (DCM), a common heart failure type, has a strong genetic basis. Advances in next-generation sequencing and functional genomics are revealing the molecular genetics of DCM.

Area of Science:

  • Cardiovascular Medicine
  • Human Genetics
  • Molecular Biology

Background:

  • Heart failure (HF) affects approximately 40 million people globally.
  • While acquired causes exist, genetic factors are increasingly recognized in HF.
  • Dilated cardiomyopathy (DCM) is the most prevalent form of HF.

Purpose of the Study:

  • To review the molecular genetics of DCM.
  • To integrate insights from next-generation sequencing (NGS) in clinical settings.
  • To synthesize findings from recent functional genomics research.

Main Methods:

  • Literature review of clinical applications of NGS in HF.
  • Analysis of recent functional genomics studies.
  • Synthesis of contemporary data on DCM molecular genetics.

Main Results:

  • Next-generation sequencing technologies have significantly advanced the understanding of HF genetics.
  • Functional genomics studies provide crucial insights into DCM pathogenesis.
  • A growing number of genetic variants are linked to DCM.

Conclusions:

  • The genetic basis of DCM is a rapidly evolving field.
  • Integrating clinical sequencing data with functional genomics is key to understanding DCM.
  • This review provides a contemporary perspective on DCM molecular genetics.

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