Heart failure & cardiomyopathies
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy
Authors' conclusion
In the largest sequenced DCM cohort yet described, we observe robust disease association with 12 genes, highlighting their importance in DCM and translating into high interpretability in diagnostic testing.
Study context
- Population
- Patients with dilated cardiomyopathy2,538 patients with dilated cardiomyopathy (DCM)
- Participants
- 1,040 / 1,498 / 912 / 60,706
- Comparison
- Rare variants in 56 putative DCM genes in DCM patients vs healthy controls and reference population
- Outpatient clinicn = 1,040
- Diagnostic referraln = 1,498
- Healthy volunteersn = 912reference
- Reference populationn = 60,706reference
- Outcome
- Burden of rare variants in 56 commonly tested DCM genes
Methodological detailsrare-variant burden analysis, replication and meta-analysis
- Rare-variant burden analysis
- Replication and meta-analysis
Main finding
As reported in the abstract
Genes robustly associated with DCM
Observational data: associations, not effects.
Further findings
Other genes analysed
- No significant excess; limited diagnostic value
Original publication
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy. Circulation. Published 27 January 2020. doi:10.
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