CONGRESS ABSTRACT

Introduction Hypertrophic Cardiomyopathy (HCM) ranges from asymptomatic cases to severe symptoms and life-threatening complications. This study aims to evaluate clinical features, genetic factors, echocardiographic findings, and progression toward advanced stages or SCD of a large cohort of HCM patients. Methods We retrospectively analyzed 413 HCM patients (50% obstructive; 63.4% male; mean age 43 years) admitted to the cardiomyopathy unit of San Camillo Forlanini Hospital in Rome. Statistical comparisons between obstructive and non-obstructive HCM were performed to identify differences in clinical and echocardiographic characteristics (including stress-induced obstruction), disease progression, and outcomes. Results Dyspnea was reported in 50.1%, chest pain in 31.8%, and syncope in 13.8%. Genetic mutations were identified in 39%, with MYBPC3 mutations in 9.2%. Comorbidities included atrial fibrillation(13.6%), hypertension(41.4%), dyslipidemia(30.8%), and diabetes(7.5%). Pharmacological treatments included beta-blockers(61.3%), ACE inhibitors/ARBs/ARNI(40.9%), and disopyramide(9.4%). Echocardiographic data revealed an average EF of 66.2% ± 9.3%, a mean left ventricular wall thickness of 20.5 ± 4.5 mm, and a peak LVOT gradient of 46.3 ± 36.9 mmHg. Pulmonary artery systolic pressure averaged 20.4 ± 10.7 mmHg at rest and increased to 36.4 ± 13.7 mmHg during exercise. Elevated filling pressure was observed in 34%. Over a mean follow-up of 8.7 ± 3 years, 2.4% progressed to end-stage HCM, and 9.2% required invasive interventions (myectomy or alcohol septal ablation). Device-based therapies (ICDs) were utilized in 8.2%, and aborted sudden cardiac death was reported in 0.7%. Advanced NYHA classes developed in 18.5%. Rehospitalization occurred in 10.7% of patients, with a significantly higher prevalence in obstructive HCM(p<0.01). Mutation carriers had greater hypertrophy (21.6 ± 4.3 mm vs. 19.3 ± 4.4 mm, p < 0.01) and higher rates of obstructive physiology and NYHA class progression. Conclusion LVOTO in HCM impairs functional status, while genetic mutations exacerbate severity and increase the likelihood of advanced disease stages. Despite advances in pharmacological therapies and interventions, end-stage HCM and frequent hospitalizations remain a concern, underscoring the need for personalized management and close patient monitoring which integrates genetic, echocardiographic (both resting and stress), and clinical findings.