Current approaches and future perspectives on hypertrophic Cardiomyopathy/Abordagens atuais e perspectivas futuras sobre cardiomiopatia hipertrofica

Hypertrophic cardiomyopathy (HCM) is a genetic cardiac disorder characterized by significant myocardial hypertrophy and varying degrees of fibrosis, affecting approximately 0.2% of the general population, with a higher prevalence in those with cardiac conditions. Despite its frequency, HCM remains underdiagnosed due to its broad clinical spectrum. The disease is equally prevalent in men and women, presenting in forms ranging from mild to severe, and it is the leading cause of sudden cardiac death in adolescents and young adults, particularly athletes. Recent advances in genetic engineering and biotechnology have significantly improved the understanding, diagnosis, and treatment of HCM, emphasizing the importance of early diagnosis in preventing severe complications. This review synthesizes findings from a narrative literature review, highlighting advances in risk stratification, gene therapy, biomarker utilization, and the need for further research to make these innovations more widely available in clinical practice. The study also examines the disease's pathophysiology, genetics, diagnostic methods, and treatment strategies, underlining the importance of personalized approaches to managing HCM. KEY WORDS: Sudden cardiac death; Hypertrophic cardiomyopathy; Heart failure. A cardiomiopatia hipertrofica (CMH) e uma doenca cardiaca genetica caracterizada por hipertrofia miocardica intensa e fibrose de extensao variavel, sendo a doenca cardiaca genetica mais comum, com prevalencia de ate 0,5% na populacao geral. Apesar de frequentemente subdiagnosticada, a CMH e a principal causa de morte subita em adolescentes e adultos jovens, especialmente atletas. Avancos significativos nas ultimas decadas em engenharia genetica e biotecnologia tem aprimorado o diagnostico precoce e a prevencao da morte subita. Este estudo revisa os metodos diagnosticos e terapeuticos da CMH, com enfase em novas estrategias de estratificacao de risco, terapia genica e uso de biomarcadores, alem de destacar a necessidade de mais pesquisas para a implementacao clinica dessas inovacoes. Uma revisao narrativa foi conduzida a partir de 65 artigos selecionados, abordando temas como patofisiologia, genetica, metodos diagnosticos, tratamento e perspectivas futuras. PALAVRAS-CHAVE: Morte cardiaca subita; Cardiomiopatia Hipertrofica; Insuficiencia cardiaca.