PRKAG2-related cardiomyopathy
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.
MONDO:0005217
familial cardiomyopathy
is_a
PRKAG2 cardiac syndrome
exact
PRKAG2 cardiomyopathy
exact
PRKAG2 syndrome
exact
PRKAG2-related cardiomyopathy
exact
SPAC1556.08c