Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy (HCM) represents the most prevalent genetic cardiomyopathy, arising from mutations in sarcomeric proteins that lead to abnormal thickening of the left ventricular wall. This hypertrophy, typically asymmetric and concentrated in the interventricular septum, impairs diastolic filling and can provoke dynamic left ventricular outflow tract obstruction (LVOTO).
Common symptoms include exertional dyspnea, angina, palpitations, fatigue, and syncope, though many individuals remain asymptomatic until advanced stages. Sudden cardiac death, particularly in young athletes, underscores HCM's status as a leading cause in those under 35. Diagnosis relies on echocardiography revealing wall thickness ?15 mm (?13 mm in relatives), supported by ECG, cardiac MRI, and genetic testing.

Management prioritizes symptom relief and risk stratification. Beta-blockers or calcium channel blockers alleviate obstruction; mavacamten offers targeted myosin inhibition for obstructive HCM. High-risk patients receive implantable cardioverter-defibrillators (ICDs). Septal reduction therapies—alcohol septal ablation or myectomy—are reserved for refractory cases. Lifestyle modifications, like avoiding intense exercise, are essential. Family screening is critical given autosomal dominant inheritance. Ongoing research into gene-specific therapies promises improved outcomes.