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Coronary disease & ACSCohort study

Assessing the Association Between Genetic and Phenotypic Features of Dilated Cardiomyopathy and Outcome in Patients with Coronary Artery Disease

Eur J Heart FailPublished

  • Cohort study
  • two cohorts (UK Biobank and London tertiary-centre cohort)
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Authors' 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

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

OutcomeOR (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
OutcomeEstimateP 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:10.1002/ejhf.3033
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Summarised from the published abstract; every number is checked against it