Hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is the most common Mendelian inherited autosomal-dominant cardiomyopathy. The consequences of severe hypertrophy of the cardiac muscle, combined with or without left ventricular outflow tract obstruction, range from a clinical condition that is benign to the most severe disease entities of heart failure and sudden cardiac death. The new European guidelines of the European Society of Cardiology, published in 2014, summarize the current level of evidence and give important information about almost every aspect of managing patients. For the first time, precise recommendations about genetic diagnostics were given. Genetic testing using high-throughput sequencing are still contentiously and fervently debated, but could improve our understanding of HCM in the future and possibly also the management of patients with HCM. Moreover, new translational applications originating from basic research give rise to the hope of being able to offer novel and targeted therapies (e.g., gene therapy) for HCM in the future.