Hypertrophic Cardiomyopathy Registry in Non-Specialized Centers: Final Results

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Abstract

Background: Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease, exhibiting a wide range of clinical presentations, from asymptomatic forms to advanced heart failure and sudden cardiac death. Although therapeutic strategies have improved outcomes, most patients are still managed in non-specialized centers with variable access to advanced diagnostic tests and a lack of a standardized approach.

Objectives: To describe clinical practice and access to diagnostic tests for patients with HCM in non-specialized centers in Argentina.

Methods: We conducted a nationwide, retrospective, multicenter and observational study. Patients > 18 years with a confirmed or highly probable diagnosis of HCM, followed up by cardiologists at outpatient clinics of non-specialized centers were included. Cases with secondary hypertrophy were excluded. Data were collected on the REDCap platform of the Argentine Society of Cardiology between June 1, 2023, and September 1, 2024.

Results: A total of 160 patients from 8 provinces were included (mean age 48 years; 60.6% men). The most common cardiovascular risk factors were hypertension (46.7%) and dyslipidemia (31.4%). The most common reason for consultation was a presumptive or confirmed diagnosis of HCM (43.4%), followed by symptoms such as dyspnea and angina. Echocardiography was performed in 97.5% of cases, cardiac magnetic resonance imaging (CMRI) in 60%, and genetic testing in 40%. Among patients who underwent genetic testing, the diagnostic yield was 82.8%, with a predominance of variants in sarcomere genes MYH7 and MYBPC3. Left ventricular outflow tract obstruction was present in 34.3% of patients, and late gadolinium enhancement was observed in 81.2% of those evaluated by CMRI. Most patients received beta-blockers, and a subgroup required interventions, including 26 implantable cardioverter-defibrillator implantations and 4 septal myectomy procedures.

Conclusions: This first Argentine registry of HCM in non-specialized centers reveals significant differences in the use of ancillary tests and implementation of therapeutic strategies. These findings evidence the presence of inequities in access to diagnostic resources and care pathways, underscoring the need to strengthen medical education, develop referral networks, and adapt international guidelines to the local context to optimize the diagnosis and management of this disease.