Mechanisms of the pathogenesis of troponin T-based familial hypertrophic cardiomyopathy

Abstract

Mutations in cardiac troponin T (cTnT) cause hypertrophic cardiomyopathy characterized by comparatively little cardiac hypertrophy, but a high incidence of sudden cardiac death. Transgenic mice modeling this disease have smaller cardiomyocytes, leading to smaller hearts. However, different mutations in cTnT have distinct phenotypes with respect to fibrosis, induction of molecular markers, and systolic function. Such models ideally allow for testing of the role of individual phenotypes in the pathways leading to cardiomyopathy, as well as identification of factors such as exercise that can affect the disease.