Vnitr Lek 2024, 70(2):113-119 | DOI: 10.36290/vnl.2024.023

Novel insights into pathophysiology and management of hypertrophic cardiomyopathy

Miloš Kubánek

Klinika kardiologie, Institut klinické a experimentální medicíny, Praha

We aimed to summarize the current knowledge regarding the pathophysiology and management of hypertrophic cardiomyopathy (HCM). Genetic aetiology of HCM can be traced in approximately 30-50% of probands. The predominant pathogenetic mechanisms of genetic HCM seem to be hypercontractility of sarcomere and its impaired relaxation due to depletion of super-relaxed isoform of cardiac myosin heavy chain. These processes may lead to an increased energetic consumption and possibly to progression of left ventricular (LV) hypertrophy. Inhibition of cardiac myosin ATPase corrects hypercontractility of sarcomere and its impaired relaxation both in tissue and animal models of genetic HCM. At the clinical level, HCM leads to LV hypercontractility, LV diastolic dysfunction and in a subset of patients also to a significant obstruction of LV outflow tract. The most important therapeutic goals are the management of heart failure in obstructive and non-obstructive form of HCM, surveillance of atrial fibrillation occurrence together with an adequate prevention of systemic thromboembolism, prevention of sudden cardiac death and specific treatment of HCM phenocopies. Mavacamten has been recently registered as a treatment of obstructive HCM. In this setting, the above-mentioned inhibitor of ATPase of cardiac myosin improves symptoms, exercise tolerance, obstruction of LV outflow tract and reduces the need for an invasive septal ablation. The latest guidelines have incorporated mavacamten into the therapeutic algorithm of management of LV outflow obstruction as the second choice after failure of betablockers, verapamil and diltiazem.

Keywords: hypertrophic cardiomyopathy, treatment, mavacamten.

Accepted: March 26, 2024; Published: April 10, 2024  Show citation