Right Ventricle Involvement by Glycogen Storage Cardiomyopathy (PRKAG2): Standard and Advanced Echocardiography Analyses.

Background: PRKAG2 syndrome is a rare, early-onset autosomal dominant inherited disease. We aimed to describe the right ventricle (RV) echocardiographic findings using two and three-dimensional (2D and 3D) modalities including myocardial deformation indices in this cardiomyopathy. We also aimed to demonstrate whether this technique could identify changes in RV function that could distinguish any particular findings.

Glycogen storage cardiomyopathy (PRKAG2): diagnostic findings of standard and advanced echocardiography techniques.

Aims: Describe the findings obtained using standard echocardiography (Echo) and deformation indices (2D and 3D speckle tracking strain) in patients (Pts) with PRKAG2 cardiomyopathy. Seek to identify any peculiar characteristics and possible strain patterns that may distinguish this condition from other causes of left ventricular hypertrophy (LVH).

Methods And Results: Thirty Pts with genetically proven PRKAG2 (R302Q and H401Q), 16 (53.