Abstract
Hypertrophic cardiomyopathy (HCM) is a fascinating yet potentially life-threatening genetic cardiac disorder that remains a major focus of cardiovascular research. First described by Donald Teare in 1957, HCM is characterized by unexplained thickening of the myocardial walls due to mutations in sarcomeric protein genes, leading to impaired cardiac relaxation, diastolic dysfunction, and arrhythmogenic potential. Unlike secondary hypertrophy caused by hypertension or valvular diseases, HCM develops independently and often silently, posing diagnostic challenges. Clinically, it ranges from being asymptomatic to presenting with exertional dyspnea, angina, syncope, or sudden cardiac death, particularly in young individuals and competitive athletes. Recent advances in imaging, genetics, and pharmacotherapy, including novel myosin inhibitors, have significantly improved early diagnosis and management. This review aims to provide a comprehensive understanding of the pathophysiology, diverse morphological phenotypes, clinical presentation, diagnostic strategies, and emerging therapeutic options for HCM, highlighting the importance of early recognition to prevent catastrophic outcomes.
