Hypertrophic cardiomyopathy: state of the art on diagnosis and current therapeutic approach

BACKGROUND: Hypertrophic cardiomyopathy is the most common genetic cardiomyopathy and is characterized by unexplained myocardial hypertrophy. This condition exhibits marked clinical and prognostic heterogeneity. Advances in cardiovascular imaging techniques and genetic testing have significantly improved the diagnostic accuracy, phenotypic characterization, and prognostic assessment. Hypertrophic cardiomyopathy can present with a broad spectrum of genetic substrates and clinical presentations, ranging from asymptomatic individuals to those with heart failure, arrhythmias, and even sudden cardiac death. The first-line method for diagnosis, risk stratification, and follow-up of these patients is echocardiography, but additional techniques, such as cardiac magnetic resonance imaging, provide complementary information, such as quantification of fibrosis, and more accurate measurements. Genetic testing contributes to etiological diagnosis and family screening. Treatment options include both pharmacological therapy (such as beta-blockers, calcium channel blockers, and disopyramide), which is the first-line therapy, and septal reduction techniques (alcohol septal ablation, surgical myectomy), which should be reserved for selected patients. Recently, cardiac myosin inhibitors have emerged as a novel therapeutic option, demonstrating significant reductions in left ventricular outflow tract obstruction and improvement in symptoms. CONCLUSION: Hypertrophic cardiomyopathy has evolved considerably with advances in imaging techniques, genetic evaluation, and targeted therapies. This review examines the primary diagnostic and management strategies, both established and emerging, for hypertrophic cardiomyopathy.