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Evidence-Based Assessment of Genes in Dilated Cardiomyopathy
Elizabeth Jordan1, Laiken Peterson1, Tomohiko Ai1
1Division of Human Genetics (E.J., L.P., T.A., R.E.H.), Department of Internal Medicine, Wexner Medical Center, The Ohio State University, Columbus.
Circulation
|May 5, 2021
Summary
Dilated cardiomyopathy (DCM) genetics is complex, with 19 high-evidence genes identified. Clinical genetic testing panels often include genes with limited evidence, necessitating careful interpretation of DCM variants.
Area of Science:
- Genetics
- Cardiology
- Molecular Biology
Background:
- Dilated cardiomyopathy (DCM) has a complex genetic architecture with over 250 implicated genes.
- Unlike hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy, DCM genetics is not linked to single protein types.
- A systematic curation was performed to clarify the gene-disease relationships in DCM.
Purpose of the Study:
- To systematically curate evidence linking genes to idiopathic DCM.
- To classify genes based on the strength of their association with DCM.
- To evaluate the representation of DCM genes in clinical genetic testing panels.
Main Methods:
- An international expert panel evaluated evidence for monogenic relationships with DCM.
- The Clinical Genome Resource framework was adapted to classify gene-disease validity.
- Gene representation on clinical genetic testing panels was assessed.
Main Results:
- Of 51 curated genes, 19 showed high evidence (12 definitive/strong, 7 moderate).
- These 19 genes explain only a fraction of DCM genetic causes.
- Clinical panels included most high-evidence genes but also many with minimal evidence.
Conclusions:
- 19 genes demonstrate high evidence for association with DCM.
- The genetic architecture of DCM remains incompletely understood.
- Clinical practice should prioritize high-evidence DCM genes, with caution for variants in genes with limited evidence.
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