Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy.

ABSTRACT:

Background

Sarcomere mutations cause both dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM); however, the steps leading from mutation to disease are not well described. By studying mutation carriers before a clinical diagnosis develops, we characterize the early manifestations of sarcomere mutations in DCM and investigate how these manifestations differ from sarcomere mutations associated with HCM.

Methods and results

Sixty-two genotyped individuals in families with sarcomeric DCM underwent clinical evaluation including strain echocardiography. The group included 12 subclinical DCM mutation carriers with normal cardiac dimensions and left ventricular ejection fraction (LVEF ≥55%), 21 overt DCM subjects, and 29 related mutation (-) normal controls. Results we

SUBMITTER: Lakdawala NK 

PROVIDER: S-EPMC3646896 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature