Heart failure & cardiomyopathiesCohort study
Genetic Landscape of Patients With Dilated Cardiomyopathy and a Systemic Immune-Mediated Disease
- Multicentre genetic cohort study
- 3 European centres
Authors' conclusion
One in 6 DCM patients with an SID has an underlying P/LP variant in a DCM-associated gene.
Study context
- Population
- Patients with dilated cardiomyopathy (DCM) and a systemic immune-mediated disease (SID)
- Participants
- 183 / 20,917 / 560 / 1,333
- Exposure
- DCM-SID patients vs healthy controls, DCM without SID and suspected SID
- DCM-SIDn = 183
- Healthy controln = 20,917reference
- DCM without SIDn = 560
- Suspicion of an SIDn = 1,333
- Outcome
- Prevalence of pathogenic/likely pathogenic (P/LP) variants in DCM-associated genes
Main finding
As reported in the abstract
Prevalence of P/LP variants
Maastricht vs Healthy control: P < 0.001 · Madrid/Trieste vs Healthy control: P < 0.001
Observational data: associations, not effects.
Further findings
Truncating variants
OR Maastricht 24.5 · Madrid/Trieste 116.6
- Truncating variants — Strongest enrichment; TTNtv most prevalent
- both P < 0.001
LVEF at presentation, TTNtv-SID vs DCM-SID without P/LP
- Reduced in TTNtv-SID
- P = 0.016
Clinical outcomes (all-cause mortality, HF hospitalization, life-threatening arrhythmias) by P/LP variant · median follow-up 8.4 years (Q1-Q3: 4.9-12.1 years)
- No impact of P/LP variant
Original publication
Genetic Landscape of Patients With Dilated Cardiomyopathy and a Systemic Immune-Mediated Disease. JACC Heart Fail. Published 16 October 2024. doi:10.1016/j.jchf.2024.08.011
Summarised from the published abstract; every number is checked against it