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Genetics of Dilated Cardiomyopathy

Ramone Eldemire1, Luisa Mestroni1,2, Matthew R G Taylor2,3

  • 1Division of Cardiology, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA;

Annual Review of Medicine
|October 3, 2023
PubMed

Insights

Dilated cardiomyopathy (DCM) is a common heart condition often caused by genetic mutations. Identifying these genetic causes improves diagnosis and enables personalized treatments for dilated cardiomyopathy patients.

Area of Science:

  • Cardiology
  • Molecular Genetics
  • Genomics

Background:

  • Dilated cardiomyopathy (DCM) is a prevalent global heart disease characterized by ventricular dilation and/or dysfunction.
  • Approximately 40% of familial DCM cases have a known genetic origin, highlighting the importance of molecular genetics.
  • Gene mutations impacting cardiomyocyte function, particularly those affecting cell-cell junctions and the cytoskeleton, are linked to arrhythmias and sudden cardiac death.

Purpose of the Study:

  • To review the advancements in identifying genetic causes of dilated cardiomyopathy.
  • To discuss the role of molecular genetics in understanding DCM.
  • To highlight the potential of precision medicine and gene-specific therapies for DCM patients.

Main Methods:

  • Review of current literature on genetic causes of DCM.
  • Analysis of next-generation sequencing and cardiac imaging advancements.
  • Discussion of gene mechanism-specific therapies.

Main Results:

  • Numerous gene mutations have been identified that contribute to DCM.
  • Next-generation sequencing and cardiac imaging have significantly improved genetic DCM identification.
  • Precision medicine approaches are becoming central to DCM management.

Conclusions:

  • Genetic factors play a significant role in a substantial portion of DCM cases.
  • Advances in genetic technologies have enhanced the diagnosis of genetic DCM.
  • Gene mechanism-specific therapies offer promising future treatment avenues for patients with genetic cardiomyopathy.

Keywords:
cardiac magnetic resonance imagingdilated cardiomyopathyechocardiographyepidemiologygenetics

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