Key result
Gene-positive status in hypertrophic cardiomyopathy increased the risk of heart failure-related death or cardiac transplantation compared to gene-elusive status (HR 5.86; 95% CI 2.26-15.25; P<0.001).
Why the study?
This study sought to determine the relationship between genotype and other clinical predictors of heart failure outcomes in hypertrophic cardiomyopathy patients.
Does gene-positive status predict heart failure-related death or cardiac transplantation in patients with hypertrophic cardiomyopathy?
Cohort (n=505)
No
Does gene-positive status predict heart failure-related death or cardiac transplantation in patients with hypertrophic cardiomyopathy?
In patients with hypertrophic cardiomyopathy, a positive genotype for sarcomere protein variants strongly predicts heart failure-related death or cardiac transplantation independent of other clinical markers.
Captured external expert commentary on this paper, strongest first. Original sources are linked where available.
“These findings suggest that integration of genotype with established clinical markers of hemodynamic stress, systolic performance, and functional capacity may help identify patients at higher risk of HF progression. However, the model should be viewed primarily as an exploratory framework for ris...”
May inform genotype-based risk stratification in HCM; extends observational data but leaves prospective validation open.
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Bakalakos et al. (2026) conducted a cohort in Hypertrophic cardiomyopathy (HCM) (n=505). Gene-positive (G+) status vs. Gene-elusive (G-) status was evaluated on HF-related death or cardiac transplantation (HR 5.86, 95% CI 2.26-15.25, p=< 0.001). Gene-positive status in hypertrophic cardiomyopathy increased the risk of heart failure-related death or cardiac transplantation compared to gene-elusive status (HR 5.86; 95% CI 2.26-15.25; P<0.001).
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