Heart failure & cardiomyopathies
Rare Variant Genetics and Dilated Cardiomyopathy Severity: The Dilated Cardiomyopathy (DCM) Precision Medicine Study
Main finding · Pathogenic or likely pathogenic variantsResult — go to the resultOdds ratio 2.3 95% CI 1.5–3.6Authors' conclusion
Advanced DCM was associated with higher odds of rare variants in DCM genes adjudicated as pathogenic or likely pathogenic, compared with individuals with less severe DCM.
Study context
- Population
- Patients with DCM in the US multisite DCM Precision Medicine Study, enrolled 2016–2021; multiracial, multiethnic cohort
- Participants
- 1,198 patients
- Exposure
- Rare variant genetic findings by DCM severity
- LVAD/HTn = 347
- Implantable cardioverter defibrillator (ICD)n = 511
- No LVAD/HT or ICDn = 340reference
- Outcome
- Pathogenic or likely pathogenic rare variants in 36 DCM genes
Methodological detailsmultisite, multinomial models with generalized logit link
- Multisite
- Multinomial models with generalized logit link
Main finding
Pathogenic or likely pathogenic variants
Odds ratio
2.3
95% CI 1.5–3.6
By group
LVAD/HT vs No LVAD/HT or ICD
OR 2.3 (95% CI 1.5–3.6)
As reported in the abstract
Observational data: associations, not effects.
Original publication
Rare Variant Genetics and Dilated Cardiomyopathy Severity: The DCM Precision Medicine Study. Circulation. Published 29 August 2023. doi:10.
Summarised from the published abstract; every number is checked against it