Review: Hypertrophic Cardiomyopathy

Abstract

Hypertrophic cardiomyopathy (HCM) is one of the most common hereditary heart disorders, primarily characterized by left ventricular hypertrophy unrelated to other cardiovascular or systemic conditions. This condition is often linked to mutations in sarcomeric protein genes and demonstrates variable penetrance and clinical expression. The genetic basis of HCM has been extensively explored, with mutations in genes encoding proteins such as myosin-binding protein C (MYBPC3) and beta-myosin heavy chain (MYH7) being among the most frequently implicated. These genetic variations give rise to a complex pathophysiology that impacts cardiac structure and function, influencing both diagnosis and management. Clinically, HCM can present as asymptomatic or with symptoms such as chest pain, dyspnea, syncope, or sudden cardiac death, particularly in young athletes. This review examines the genetic underpinnings of HCM, its diverse clinical manifestations, diagnostic challenges, and evolving treatment modalities. Contemporary approaches include pharmacological management, surgical and non-surgical interventions, and innovative gene therapy techniques. As the field advances toward precision medicine, understanding the genotype-phenotype relationship in HCM is essential to optimize patient outcomes. This review provides a comprehensive analysis of current knowledge in HCM, emphasizing the importance of genetic insights for effective clinical management and future therapeutic innovations.