Key result
Pathogenic MYBPC3 variants linked to ~4-fold higher odds of severe LVH in pediatric HCM.
Why the study?
Does the presence of pathogenic genetic variants correlate with echocardiographic maximal left ventricular wall thickness severity in children with primary hypertrophic cardiomyopathy?
Population
143 children with primary hypertrophic cardiomyopathy from pediatric cardiomyopathy centers, median age 11.5…
Comparison
Presence of pathogenic genetic variants vs Absence of pathogenic genetic variants
Design
Cohort
Authors
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MYBPC3 variants may flag higher-risk pediatric HCM; supports genotype-phenotype research but leaves open impact on management or outcomes.
Observational (n=143)
Yes
Does the presence of pathogenic genetic variants correlate with echocardiographic maximal left ventricular wall thickness severity in children with primary hypertrophic cardiomyopathy?
Odds Ratio: 4.1 (95% CI 1.7–9.9)
In pediatric hypertrophic cardiomyopathy, severe left ventricular hypertrophy is associated with younger age at diagnosis and a higher likelihood of MYBPC3 pathogenic variants.
Pahl et al. (2026) conducted an observational in pediatric hypertrophic cardiomyopathy (n=143). Pathogenic variants in MYBPC3 vs. Absence of MYBPC3 pathogenic variants was evaluated on Severe left ventricular hypertrophy (z-score ≥17) (OR 4.1, 95% CI 1.7-9.9). Pathogenic variants in MYBPC3 were significantly associated with severe left ventricular hypertrophy in children with primary hypertrophic cardiomyopathy (OR 4.1; 95% CI 1.7-9.9).
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