Gender and age predict advanced heart failure in gene-negative patients with hypertrophic cardiomyopathy

Background

Patients with hypertrophic cardiomyopathy (HCM) may develop concomitant advanced heart failure (HF). However, there is limited data on the clinical outcomes of HCM patients without sarcomere gene mutations who have advanced HF.

Objectives

To identify prognostic factors for advanced HF in gene-negative patients within a large HCM cohort.

Methods

A total of 1529 unrelated patients with HCM were enrolled between 1999 and 2018, and followed throughout the study period. All patients underwent genotyping through whole exome or panel sequencing. From this cohort, 735 patients without mutations were studied. We assessed the effects of family history, clinical findings, and echocardiographic parameters on the development of advanced HF. Multivariable Cox proportional hazards regression analysis was conducted to identify risk factors associated with advanced HF.

Results

Of the 735 gene-negative patients studied, the mean age was 52.5±13.2 years, 69.5% were male, and the mean follow-up duration was 3.2±2.3 years. During this period, 97 patients (13.2%) developed advanced HF. Using multivariable analysis, we identified significant risk factors for advanced HF: female gender (adjusted hazard ratio [HR] 2.499, 95% confidence interval [CI] 1.531–4.081, P<0.001) and older age at enrollment (adjusted HR 1.298, 95% CI 1.00–1.682, P=0.049). These findings suggest that female patients and those enrolled at an older age are at a higher risk for developing advanced HF.

Conclusion

Female gender and older age may predict a higher risk of advanced HF in gene-negative patients with HCM. Early detection and proactive treatment are crucial for managing and preventing complications in these patients.