Contribution of sarcomere gene mutations to left atrial function in patients with hypertrophic cardiomyopathy.

ABSTRACT:

Background

Left atrial (LA) enlargement and dysfunction are related to clinical course in patients with hypertrophic cardiomyopathy (HCM). We aimed to investigate genetic contribution to LA structural and functional remodeling.

Methods

Two hundred twelve patients were consecutively enrolled, and echocardiography and extensive genetic analysis were performed. Cardiac magnetic resonance (CMR) was performed in 135 patients. Echocardiography was also performed in controls (n = 30).

Results

Patients with HCM had lower late-diastolic mitral annular velocity (a') and higher LA volume index (LAVI) than controls. Patients with pathogenic or likely pathogenic sarcomere gene mutations (PSM, n = 67, 32%) had higher LAVI and lower CMR-derived LA total emptying fraction (37.0 ± 18.

SUBMITTER: Chung H 

PROVIDER: S-EPMC7789152 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature