Abstract
Abstract
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disorder, yet remains substantially underdiagnosed in clinical practice. Although current guidelines define HCM primarily based on left ventricular wall thickness, this approach alone does not capture the full spectrum of disease expression. Comprehensive phenotyping using multimodality imaging, combined with genetic testing and systematic family screening, allows for more accurate diagnosis and earlier detection, although its integration into routine clinical algorithms remains incomplete. Clinical outcomes and therapeutic strategies in HCM are largely driven by disease-related complications. These include heart failure, atrial fibrillation, ventricular arrhythmias, and sudden cardiac death, where risk stratification and prevention are central. While left ventricular outflow tract obstruction represents a major therapeutic target with rapidly evolving treatment options, alternative obstruction phenotypes and non-obstructive disease have received comparatively less attention. In these patients, symptoms are often determined by microvascular dysfunction, diastolic impairment, and myocardial fibrosis, contributing to myocardial ischemia and heart failure. Recent advances in targeted therapies, particularly cardiac myosin inhibitors, highlight the increasing importance of precise phenotypic characterization for treatment selection. However, their long-term impact on disease progression and clinical outcomes remains to be established. Overall, HCM should be considered a dynamic and heterogeneous disease continuum requiring individualized, phenotype-driven diagnostic and therapeutic strategies.