Echocardiographic characteristics of PRKAG2 syndrome: a research using three-dimensional speckle tracking echocardiography compared with sarcomeric hypertrophic cardiomyopathy.

ABSTRACT:

Background

PRKAG2 syndrome is a rare disease characterized as left ventricular hypertrophy (LVH), ventricular preexcitation syndrome, and sudden cardiac death. Its natural course, treatment, and prognosis were significantly different from sarcomeric hypertrophic cardiomyopathy (HCM). However, it is often clinically misdiagnosed as sarcomeric HCM. PRKAG2 patients tend to experience delayed treatment. The delay may lead to adverse outcomes. This study aimed to identify the echocardiographic parameters which can differentiate PRKAG2 syndrome from sarcomeric HCM.

Methods

Nine PRKAG2 patients with LVH, 41 HCM patients with sarcomere gene mutations, and 202 healthy volunteers were enrolled. Clinical characteristics, conventional echocardiography, and three-dimensional images were

SUBMITTER: Tang L 

PROVIDER: S-EPMC9069802 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature