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).
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.
Hazard Ratio: 5.86 (95% CI 2.26–15.25)
Absolute Event Rate: 12.8% vs 2.1%
p-value: p=< 0.001
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a myocardial disorder characterized by left ventricular hypertrophy and progression to heart failure (HF). Approximately 40% of cases are caused by variants in genes encoding sarcomere proteins. OBJECTIVES: This study sought to determine the relationship between genotype and other clinical predictors of HF outcomes in HCM patients. METHODS: This observational, single-center cohort comprised 505 genotyped HCM patients (52 years of age Q1-Q3: 41-62 years, 33% women). Patients were stratified into gene-positive (G+) and gene-elusive (G-) groups. The primary endpoint was HF-related death or cardiac transplantation. Secondary endpoints included cardiac death, arrhythmic events, and all-cause mortality. Proportional hazards models were used to evaluate predictors of outcomes, including genetic status, log-transformed N-terminal pro-B-type natriuretic peptide (NT-proBNP) levels, peak VO RESULTS: During a median follow-up of 10.6 years (Q1-Q3: 4.6-15.0 years), 34 patients (6.7%) experienced the primary outcome (HF-related death: 22 4.4% and heart transplantation: 12 2.4%). The HF endpoint occurred in 12.8% (28 of 219) of the G+ group compared with 2.1% (6 of 286) of the G- group. In multivariable Cox analysis, G+ status (HR: 5.86; 95% CI: 2.26-15.25; P < 0.001), log NT-proBNP (HR: 2.46; 95% CI: 1.59-3.80; P < 0.001), peak VO CONCLUSIONS: Genetic status, peak VO
“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...”
Bakalakos et al. (Mon,) 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).