The Evolving Landscape of Hypertrophic Card iomyopathy Phenocopies and Diagnostic Pathways in Hypertrophic Cardiomyopathy

Abstract

HCM should be regarded not just as a single genetic entity, but rather as a phenotypic manifestation that may arise from a wide range of underlying etiologies. The clinician must maintain vigilance for HCM phenocopies-infiltrative diseases, storage disorders, and other cardiac conditions-that can imitate HCM yet carry different prognoses and therapies. A comprehensive diagnostic strategy incorporating multimodality imaging, laboratory assessments, and genetic testing, while maintaining awareness of key clinical warning signs, often enables the accurate identification of the true etiology behind LVH. Importantly, early recognition of an HCM mimic permits timely initiation of targeted therapies, such as enzyme replacement, disease-specific pharmacologic agents, or immunosuppressive treatment, which can significantly improve patient outcomes compared with non-specific or misdirected management. Ultimately, the diagnostic evaluation of HCM must go beyond confirming the presence of hypertrophy to understanding its underlying cause. Through meticulous assessment and a high index of suspicion, clinicians can deliver more precise and personalized care, ensuring that each patient receives the most appropriate and effective treatment.