Assessing the Association Between Genetic and Phenotypic Features of Dilated Cardiomyopathy and Outcome in Patients with Coronary Artery Disease
Main finding · Death or major adverse cardiac events (UKB)Result — go to the resultHazard ratio 1.57 95% CI 1.22–2.01Authors' conclusion
Rare pathogenic variants in DCM-associated genes impact left ventricular remodelling and outcomes in stable CAD. NI-LGE is associated with adverse remodelling but is not an independent predictor of outcome and had no rare genetic basis in our study.
Study context
- Population
- Individuals with coronary artery disease (CAD) (UK Biobank; patients referred to a tertiary centre for LGE-CMR)UK Biobank (UKB)
- Participants
- 31,154 individuals
- Exposure
- Rare variant vs Genotype negative
Methodological detailstwo cohorts (UK Biobank and London tertiary-centre cohort)
- Two cohorts (UK Biobank and London tertiary-centre cohort)
Main finding
Death or major adverse cardiac events (UKB)
Hazard ratio
1.57
95% CI 1.22–2.01
P < 0.001
Rare variant vs Genotype negative
HR 1.57 (95% CI 1.22–2.01); P < 0.001
As reported in the abstract
Observational data: associations, not effects.
Further findings
LVEF (UKB CMR substudy, n = 1619)
P < 0.001
| Outcome | OR (95% CI) | P value | |
|---|---|---|---|
| Rare protein altering variants in DCM-associated genes, NI-LGE vs no NI-LGE (London cohort) | 1.5 (0.4–4.3) | P = 0.4 | |
| 0.20.5125Odds ratio (log scale) |
| Outcome | Estimate | P value |
|---|---|---|
| LVEF, NI-LGE vs no NI-LGE (London cohort) | P < 0.001 |
- Left ventricular ejection fraction (LVEF), NI-LGE vs no NI-LGE (London cohort): NI-LGE mean 38 (SD 18) %
- LVEF, NI-LGE vs no NI-LGE (London cohort): No NI-LGE mean 48 (SD 16) %
- Rare protein altering variants in dilated cardiomyopathy (DCM)-associated genes, NI-LGE vs no NI-LGE (London cohort): NI-LGE 9.5%
- Rare protein altering variants in DCM-associated genes, NI-LGE vs no NI-LGE (London cohort): No NI-LGE 6.7%
NI-LGE prevalence (London cohort)
- Non-infarct pattern late gadolinium enhancement (LGE) on cardiovascular magnetic resonance (CMR)
- 63 (14%)
Adverse clinical outcomes with NI-LGE (London cohort)
- NI-LGE not independently associated with adverse clinical outcomes
Original publication
Assessing the Association Between Genetic and Phenotypic Features of Dilated Cardiomyopathy and Outcome in Patients with Coronary Artery Disease. Eur J Heart Fail. Published 5 October 2023. doi:10.
Summarised from the published abstract; every number is checked against it