[Hypertrophic cardiomyopathy: new insights into diagnosis and therapy]

Hypertrophic cardiomyopathy (HCM) is a genetic heart disease characterized by left ventricular hypertrophy (LVH =15 mm) in the absence of other causes. It affects 1 in 500 individuals, with an autosomal dominant inheritance pattern involving MYH7 and MYBPC3, the most commonly affected genes. Diagnosis relies on echocardiography, with cardiac magnetic resonance providing additional insights, including late gadolinium enhancement, aneurysms, and microvascular dysfunction linked to adverse outcomes. Risk stratification for sudden cardiac death includes the HCM Risk-SCD (adults) and HCM Risk-Kids (pediatrics) models, guiding implantable cardioverter defibrillator therapy. Management depends on phenotype: 1. Obstructive HCM: First-line therapy includes beta-blockers or non-dihydropyridine calcium channel blockers. Myosin inhibitors offer new options for symptom control. In refractory cases, surgical myectomy or alcohol septal ablation is recommended. 2. Non-Obstructive HCM: Treatment focuses on diastolic dysfunction and arrhythmia management, with emerging pharmacologic options under investigation. 3. Atrial fibrillation: Common in HCM, requiring anticoagulation, rate control, or ablation. Advances in genetic testing, imaging, and targeted therapies have significantly reduced HCM-related mortality to 0.5% per year, transforming it into a manageable condition. Future research will enhance precision medicine, surgical expertise, and equitable access to care.