Heart failure & cardiomyopathiesCohort study
Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives
- Cohort study
- multicentre
Authors' conclusion
Following a first negative screening, approximately 11% of G+ relatives developed DCM during a median follow-up of 3 years.
Study context
- Population
- Genotype-positive relatives without dilated cardiomyopathy (DCM) from families with dilated cardiomyopathy, 25 Spanish centres
- Participants
- 779 relatives
- Outcome
- New DCM diagnosis (penetrance)
- Follow-up
- Median 37.1 months
Main finding
As reported in the abstract
Incident DCM · median 37.1 months (Q1-Q3: 16.3-63.8 months)
Developed DCM
85 (10.9%)
Incidence rate per 100 person-years
2.9 (95% CI: 2.3-3.5)
Observational data: associations, not effects.
Further findings
Independent predictors of DCM development (multivariable model excluding CMR parameters)
| Comparison | Estimate | |
|---|---|---|
| older age | HR per 1-year increase 1.02 (95% CI 1.0–1.04) | |
| an abnormal electrocardiogram | HR 2.13 (95% CI 1.38–3.29) | |
| presence of variants in motor sarcomeric genes | HR 1.92 (95% CI 1.05–3.50) | |
| lower left ventricular ejection fraction | HR per 1% increase 0.86 (95% CI 0.82–0.90) | |
| larger left ventricular end-diastolic diameter | HR per 1-mm increase 1.10 (95% CI 1.06–1.13) | |
| 0.20.5125Ratio (log scale) |
LGE as predictor of DCM development (CMR subgroup)
| Comparison | HR (95% CI) | |
|---|---|---|
| late gadolinium enhancement · n = 360, 45% with CMR and LGE assessment | 2.52 (1.43–4.45) | |
| 0.20.5125Hazard ratio (log scale) |
DCM penetrance and age at onset by gene group
- DCM penetrance different according to underlying gene group
- log-rank P = 0.015
- Age at DCM onset different according to underlying gene group
- P < 0.01
Original publication
Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives. J Am Coll Cardiol. Published 30 April 2024. doi:10.1016/j.jacc.2024.02.036
Summarised from the published abstract; every number is checked against it