Advances in Cardiovascular Imaging Imaging Phenotype Versus Genotype in

Hypertrophic cardiomyopathy (HCM) is a commonmonogenetic cardiac disease with a prevalence of 0.2%1 that usually is inherited as an autosomal dominant trait with variable penetrance and expression. Clinically, HCM is de-fined by the presence of left ventricular (LV) hypertrophy (LVH) unexplained by abnormal loading conditions.1 The natural history varies from an asymptomatic course to drug-refractory angina/dyspnea, sudden cardiac death (SCD), and end-stage heart failure. The incidence of HCM-related SCD is approximately 1 % to 2 % in children and adolescents and 0.5 % to 1 % in adults.2,3 In this review, we examine the impact of advanced diagnostic imaging technologies on HCM, with particular emphasis on the detection of particular genetic subtypes. State-of-the Art in Genetics of HCM In 60 % of cases, HCM is inherited as an autosoma