Sarcomeric versus Non-Sarcomeric HCM

Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiovascular disorder and characterized by left ventricular hypertrophy (LVH), which unexplained abnormal loading conditions. HCM inherited as an autosomal dominant trait and, in about 40% of patients, causal mutation identified genes encoding sarcomere proteins. According to results genetic screening, patients are currently categorized two main sub-populations: sarcomeric-positive (Sarc+) whom a sarcomeric gene; sarcomeric-negative (Sarc−) has not been identified. In rare cases, Sarc− cases may be caused pathogenic variants non-sarcomeric genes. The aim this review describe differences phenotypic expression clinical outcomes Sarc+ briefly discuss current knowledge mutations.