PRKAG2-related cardiomyopathy

PRKAG2-related cardiomyopathy is a metabolic heart condition caused by a change in the PRKAG2 gene. This change leads to abnormal energy use in heart cells, resulting in the storage of extra glycogen in the heart muscle. The condition is marked by variable thickening of the heart muscle (cardiac hypertrophy) and abnormal electrical signals (ventricular pre-excitation) within the heart. The buildup of glycogen and altered heart structure can affect how the heart works. This overview is based on a definition that highlights these key features of the condition.

People with this condition may experience signs related to heart muscle thickening and abnormal heart rhythms. Specifically, variable cardiac hypertrophy and ventricular pre-excitation are noted, which can affect heart function.

The cause of PRKAG2-related cardiomyopathy is a pathogenic variant in the PRKAG2 gene. This genetic change leads to a net anabolic effect in the heart cells, resulting in abnormal glycogen storage and changes in heart muscle structure.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.