| Abstract [eng] |
Introduction. Hypertrophic cardiomyopathy is a heterogeneous myocardial disease characterized by diverse clinical manifestations and left ventricular hypertrophy not explained by other causes, such as arterial hypertension or aortic and valvular stenosis. The disease is most often associated with mutations in genes encoding sarcomeric proteins, leading to structural and functional myocardial changes. Although many patients may experience mild symptoms or remain asymptomatic, hypertrophic cardiomyopathy remains one of the leading causes of sudden cardiac death in young individuals, making primary prevention particularly important. Regular risk assessment and careful monitoring allow identification of patients at high risk for life-threatening arrhythmias and early use of an implantable cardioverter defibrillator for primary prevention. Objective. To overview clinical aspects of hypertrophic cardiomyopathy and the main principles of primary prevention of sudden cardiac death, including an analysis and comparison of the guidelines from the European Society of Cardiology and the American Heart Association. Methods. A comprehensive literature search and analysis were conducted in “Pubmed” and “ScienceDirect” databases, prioritizing publications from the last 10 years with full-text access. Search terms included: “hypertrophic cardiomyopathy”, “etiology”, “epidemiology”, “clinical course”, “genetics”, “pathophysiology”, “complications”, “sudden cardiac death”, “primary prevention”, and “implantable cardioverter defibrillator”. The most recent 2023 European Society of Cardiology and 2024 American Heart Association guidelines on hypertrophic cardiomyopathy diagnosis and management were also reviewed and compared, with emphasis on key aspects of sudden cardiac death primary prevention. Conclusions. Sudden cardiac death risk assessment in hypertrophic cardiomyopathy patients requires an individualized approach, including continuous monitoring and repeated risk evaluation. European Society of Cardiology and American Heart Association risk stratification models are based on different principles, resulting in variable identification of high-risk patients. The European Society of Cardiology recommends HCM Risk-SCD calculator, which has higher specificity, while the American Heart Association approach is more sensitive in detecting high-risk individuals but may lead to overtreatment with implantable cardioverter defibrillator implantation. Evidence from reviewed studies indicates that structured models alone are insufficient, thus decisions regarding primary prevention should not rely solely on these tools. Additional risk markers, such as myocardial fibrosis, left ventricular apical aneurysm, and pathogenic variants in sarcomeric genes can improve risk stratification and help more accurately estimate individual patient risk, although they are interpreted differently across guidelines. Pharmacological treatment and lifestyle modification contribute to overall risk control, but the main intervention for preventing sudden cardiac death remains implantation of cardioverter defibrillator. Keywords: Hypertrophic cardiomyopathy, sudden cardiac death, primary prevention, risk stratification, implantable cardioverter defibrillator. |
