PRKAG2 syndrome

Also known as: glycogen storage cardiomyopathy; PRKAG2 cardiac syndrome

Cardiac glycogen storage disorder with hypertrophy, pre-excitation and conduction disease.

Medical specialty: Cardiology
Subspecialty: Cardiology / Metabolic cardiomyopathy
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, adolescence and young adulthood
Gene(s) involved: PRKAG2

Etiology & mechanism

Gain-of-function variants in the AMPK gamma-2 subunit cause glycogen accumulation in myocytes.

Gene(s) involved (1)

PRKAG2

Symptoms & signs (9)

atrial fibrillationatrioventricular blockleft ventricular hypertrophypacemaker requirementpalpitationssinus bradycardiasudden deathsyncopeventricular pre-excitation

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.