Heart failure & cardiomyopathies
Genotype-Phenotype Associations in Pediatric Hypertrophic Cardiomyopathy: A Study From the Pediatric Cardiomyopathy Registry
Main finding · Pathogenic variant in MYBPC3Result — go to the resultOdds ratio 4.1 95% CI 1.7–9.9Authors' conclusion
In this population of children with primary HCM, severe LVH was associated with a younger age at enrollment and a higher likelihood of harboring a pathogenic variant in MYBPC3.
Study context
- Population
- Children with primary hypertrophic cardiomyopathy (HCM) from pediatric cardiomyopathy centres
- Participants
- 143 adequate echocardiograms
- Exposure
- Severe left ventricular hypertrophy (LVH) vs mild LVH
- Severe LVHn = 40
- Mild LVHn = 78reference
- Outcome
- Associations between pathogenic genetic variants and echocardiographic maximal LV wall thickness
- Follow-up
- At enrollment
Methodological detailsmulticentre, research-based exome sequencing, core echocardiography laboratory
- Multicentre
- Research-based exome sequencing
- Core echocardiography laboratory
Main finding
Pathogenic variant in MYBPC3
Odds ratio
4.1
95% CI 1.7–9.9
Severe LVH vs Mild LVH
OR 4.1 (95% CI 1.7–9.9)
As reported in the abstract
- Pathogenic variant (any)
- 51%
- Of pathogenic variants, in sarcomeric genes
- 93%
Observational data: associations, not effects.
Further findings
Median, years
| Outcome | Severe LVH | Moderate LVH | Mild LVH | P value | |
|---|---|---|---|---|---|
| Age at diagnosisSevere LVH vs Mild LVH | 6.4 | Not reported in the abstract | 12.9 | P = 0.005 | Moderate LVH: not reported in the abstract |
Original publication
Genotype-Phenotype Associations in Pediatric Hypertrophic Cardiomyopathy: A Study From the Pediatric Cardiomyopathy Registry. JACC Heart Fail. Published 17 September 2026. doi:10.
Summarised from the published abstract; every number is checked against it