PRKAG2-related cardiomyopathy

Definition

A metabolic heart condition characterized by variable cardiac hypertrophy, ventricular pre-excitation, and aberrant glycogen storage in the cardiac tissue due to a pathogenic variant in PRKAG2 that results in a net anabolic effect in cardiac cells.

Also known as PRKAG2 cardiac syndrome, PRKAG2 cardiomyopathy, PRKAG2 syndrome, PRKAG2-related cardiomyopathy — per MONDO