HYPERTROPHIC CARDIOMYOPATHY: MODERN APPROACHES TO DIAGNOSIS AND TREATMENT

The review presents current literature data on the prevalence, etiology, and role of sarcomere gene mutations in the pathogenesis of hypertrophic cardiomyopathy, and pathogenetic mechanisms of myocardial hypertrophy. The review discusses the variants of the phenotype, the possible relationship between causative genes and the phenotype. The data on the pathophysiology of left ventricular outflow obstruction, diastolic dysfunction, myocardial ischemia, and rhythm disturbances are presented. The role of non-invasive imaging modalities, the limitations of echocardiography, the advantages of magnetic resonance imaging of the heart, its role in the differential diagnosis of hypertrophic cardiomyopathy and left ventricular hypertrophy in hypertension, in athletes, patients with phenocopies of hypertrophic cardiomyopathy (Anderson-Fabry disease, amyloidosis of the heart) is determined. The criteria for a worse prognosis and a high risk of sudden death are described. Options for drug treatment are discussed, as well as modern therapy with the cardiac myosin-ATP-ase inhibitor mavakamten, which acts by reducing the formation of actin-myosin bridges, reduces contractility and pressure gradient in the left ventricular outflow tract. Invasive interventions (septal myectomy or alcoholic septal ablation) are indicated in patients with ineffective drug therapy. Estimation of risk factors for sudden death is necessary to determine the indications for implantation of a cardioverter defibrillator.

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