Heart failure & cardiomyopathiesCohort study
The Yield of Clinical Screening in Pediatric Relatives of Hypertrophic Cardiomyopathy With Negative Genetic Testing
- Retrospective cohort study
Authors' conclusion
The 5-year cumulative diagnostic yield of screening childhood relatives is twofold higher in G+ families, but a childhood diagnosis was still made in 8% of G- families.
Study context
- Population
- Children (≤18 years) referred for family screening as first-degree relatives of individuals with hypertrophic cardiomyopathy (HCM)
- Participants
- 404 vs 292
- Exposure
- G+ vs G-
- G+n = 404
- G-n = 292reference
- Outcome
- Yield of clinical screening (diagnosis of HCM)
- Follow-up
- 5-year cumulative incidence
Main finding
As reported in the abstract
5-year cumulative incidence of diagnosis · 5 years
G+
11.1
95% CI 8.3–15.0
G-
4.0
95% CI 1.7–9.1
P = 0.010
- Diagnosis made overall (follow-up 68.9 ± 49.7 months)
- 66 (9.5%)
Observational data: associations, not effects.
Further findings
Families with a diagnosis
P < 0.001
| Outcome | P value |
|---|---|
| Outcomes after diagnosis (follow-up 8.6 ± 4.1 years) · symptoms: 19 [36.5%] vs 2 [14.3%] | P = 0.034 |
| Outcomes after diagnosis (follow-up 8.6 ± 4.1 years) · ICD implantation: 22 [42.3%] vs 1 [7.1%] | P = 0.014 |
Age and clinical features at diagnosis
- Did not differ
Outcomes after diagnosis (follow-up 8.6 ± 4.1 years)
- No difference in incidence of death or arrhythmic events
Original publication
The Yield of Clinical Screening in Pediatric Relatives of Hypertrophic Cardiomyopathy With Negative Genetic Testing. JACC Heart Fail. Published 10 August 2026. doi:10.1016/j.jchf.2026.103283
Summarised from the published abstract; every number is checked against it