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The Genetic Evaluation of Dilated Cardiomyopathy
Quan M Bui1, Jeffrey Ding2, Kimberly N Hong1
1Division of Cardiovascular Medicine, Department of Medicine, University of California, San Diego, La Jolla, California, USA.
Structural Heart : the Journal of the Heart Team
|September 25, 2023
Summary
Genetic testing for dilated cardiomyopathy (DCM) aids in risk stratification and family member identification. Understanding genotype-phenotype links in DCM is crucial for personalized therapies and improved patient management.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Molecular Biology
Background:
- Dilated cardiomyopathy (DCM) is a leading cause of heart failure and a primary indication for heart transplantation.
- A genetic cause is identified in 20-35% of DCM patients, particularly those with a family history of cardiomyopathy or early sudden cardiac death.
Purpose of the Study:
- To review the genetic evaluation of DCM.
- To focus on practical genetic testing considerations, genotype-phenotype associations, and emerging personalized therapies.
Main Methods:
- Review of current literature on genetic testing in DCM.
- Analysis of genotype-phenotype relationships.
- Discussion of advancements in genome sequencing.
Main Results:
- Over 60 genes have been implicated in DCM, expanding the understanding of genotype-phenotype relationships.
- Genetic testing adoption has increased, improving risk stratification and identification of at-risk family members.
Conclusions:
- Genetic evaluation is integral to DCM management.
- Personalized therapies based on genetic insights are on the horizon.
- Genetic testing facilitates improved patient care and family screening.
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