Heart failure & cardiomyopathies
Family Screening and Disease Predictors in Gene-Elusive Dilated Cardiomyopathy
Authors' conclusion
First-degree relatives of gene-elusive DCM probands have a relatively low but non-negligible risk of disease development. Familial clustering, electrocardiographic or echocardiographic abnormalities, and age of disease expression in the proband may help tailor surveillance intensity.
Study context
- Population
- First-degree relatives of gene-elusive (without pathogenic or likely pathogenic variants) dilated cardiomyopathy (DCM) probands who underwent baseline electrocardiography and echocardiographyrelatives (median age: 36 years, 48% male)
- Participants
- 292 relatives
- Outcome
- Development of the disease, defined as DCM or isolated left ventricular (LV) systolic dysfunction (LV ejection fraction: <50%)
- Follow-up
- Median 52 months
Methodological details4 international referral centers, age-adjusted Cox models with family-clustered robust standard errors
- 4 international referral centers
- Age-adjusted Cox models with family-clustered robust standard errors
Main finding
As reported in the abstract
Hazard ratio (predictor of disease development) (95% CI)P value
Familial DCM
4.24(1.38–13.1)
P = 0.012QRS duration >120 ms
7.24(2.25–23.3)
P < 0.001Lower LV ejection fraction
3.73(2.46–5.65)
P < 0.001LV dilatation
6.19(2.27–16.9)
P < 0.001- Additional relatives who developed disease
- 21
- Incidence rate
- 17 per 1,000 person-years
Secondary outcomes
Affected at baseline
- Relatives affected at baseline
- 14 (5%)
Correlation of age at diagnosis in probands with age at onset in relatives
- R
- 0.80; 95% CI: 0.55-0.92; P < 0.001
Major adverse cardiac events (exploratory secondary outcome)
- Patients with major adverse cardiac events
- 9 patients (4%)
Original publication
Family Screening and Disease Predictors in Gene-Elusive Dilated Cardiomyopathy. JACC Heart Fail. Published 23 October 2026. doi:10. 1016/ j. jchf. 2026. 103476
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