Cardiology · Cardiology / Metabolic cardiomyopathy
PRKAG2 syndrome
also: glycogen storage cardiomyopathy; PRKAG2 cardiac syndrome
Cardiac glycogen storage disorder with hypertrophy, pre-excitation and conduction disease.
- Specialty
- Cardiology
- Subspecialty
- Cardiology / Metabolic cardiomyopathy
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, adolescence and young adulthood
- Gene(s) involved
- PRKAG2
- Alternative names & eponyms
- glycogen storage cardiomyopathy; PRKAG2 cardiac syndrome
Etiology & mechanism
Gain-of-function variants in the AMPK gamma-2 subunit cause glycogen accumulation in myocytes.
Gene(s) involved (1)
Symptoms & signs (9)
In plain terms, someone with PRKAG2 syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
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Shares symptoms with
3 shared
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atrial fibrillation, palpitations, syncope
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atrial fibrillation, palpitations, syncope
2 shared
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palpitations, syncope
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palpitations, syncope
2 shared
Holiday heart syndrome
atrial fibrillation, palpitations
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Jervell and Lange-Nielsen syndrome
sudden death, syncope
2 shared
Long QT syndrome
palpitations, syncope
2 shared
Lutembacher syndrome
atrial fibrillation, palpitations
2 shared
Postural orthostatic tachycardia syndrome
palpitations, syncope
2 shared
Takotsubo cardiomyopathy
palpitations, syncope
Shares genes with
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