Ribosomal protein S6 kinase beta-1 gene variants cause hypertrophic cardiomyopathy

Abstract

Our study demonstrates for the first time that the variants in the <i>S6K1</i> gene are associated with HCM, and early detection of the <i>S6K1</i> variant carriers can help to identify family members at risk and subsequent preventive measures. Further screening in patients with HCM with different ethnic populations will establish the specificity and frequency of <i>S6K1</i> gene variants.