The role of echocardiography for diagnosis and prognostic stratification in hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is the most frequent cardiac disease with genetic substrate, affecting about 0.2–0.5% of the population. While most of the patients with HCM have a relatively good prognosis, some are at increased risk of adverse events. Identifying such patients at risk is important for optimal treatment and follow-up. While clinical and electrocardiographic information plays an important role, echocardiography remains the cornerstone in assessing patients with HCM. In this review, we discuss the role of echocardiography in diagnosing HCM, the key features that differentiate HCM from other diseases and the use of echocardiography for risk stratification in this setting (risk of sudden cardiac death, heart failure, atrial fibrillation and stroke). The use of modern echocardiographic techniques (deformation imaging, 3D echocardiography) refines the diagnosis and prognostic assessment of patients with HCM. The echocardiographic data need to be integrated with clinical data and other information, including cardiac magnetic resonance, especially in challenging cases or when there is incomplete information, for the optimal management of these patients.