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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
Summary
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.
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