BACKGROUND: Patients with hypertrophic cardiomyopathy (HCM) may develop concomitant advanced heart failure (HF). However, there is a paucity of data on the clinical outcomes of HCM patients without mutations who have advanced HF.
Methods: A total of 1529 unrelated patients with HCM were enrolled and followed up. All patients were genotyped by whole exome or panel sequencing. Patients without mutations were studied to assess the impact of family history, clinical findings and echocardiographic parameters on advanced HF.
Results: A total of 735unrelated patients with HCM were included in the study. The mean follow up duration was 3.2±2.3years. During follow-up,97 patients had advanced HF. Multivariable analysis revealed that risk factors significantly associated with advanced HF were gender [adjusted hazard ratio (HR)2.499, 95% confidence interval (CI) 1.531-4.081, P<0.001]and age at enrolment (adjusted HR 1.298,95% CI 1.00-1.682, P= 0.049) during the follow-up period.
Conclusion: Female and older at enrolment can increase risk of advanced HF in gene-negative patients with HCM . Early detection and treatment have an important role to play in management and prevention of disease-related complications for gene-negative patients.