Life sciences · Journal article
International Health Sciences Review · September 16, 2026
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Hypertrophic cardiomyopathy (HCM) is characterized by marked clinical and genetic heterogeneity, which makes early identification of affected relatives and prevention of sudden cardiac death (SCD) central components of care. This narrative review examines how family screening, SCD risk stratification, and contemporary management can be integrated across the disease course. A literature search was conducted in 2026 using PubMed, including MEDLINE-indexed records, together with the official publication platforms of major cardiology guidelines. Contemporary guidelines, validated risk models, family-screening cohorts, cardiovascular magnetic resonance studies, and pivotal therapeutic trials were prioritized. The evidence supports cascade genetic testing when a pathogenic or likely pathogenic familial variant is identified, while electrocardiographic and echocardiographic surveillance remains necessary for relatives whose genetic status does not exclude risk. SCD prevention requires repeated assessment rather than a one-time score, combining clinical risk markers, age-appropriate risk models, ambulatory rhythm monitoring, ventricular function, apical aneurysm, and myocardial fibrosis on cardiovascular magnetic resonance. Implantable cardioverter-defibrillator decisions should be individualized because arrhythmic benefit must be weighed against lifelong device complications. Management is phenotype-directed, with conventional negative inotropes, cardiac myosin inhibition, and septal reduction therapy forming a stepwise strategy for obstructive disease. Longitudinal reassessment links these domains and is essential as phenotype, risk, and treatment options evolve.