A 26-year-old woman is diagnosed with hypertrophic cardiomyopathy and asymmetric septal hypertrophy. Endomyocardial biopsy was performed.
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Glycogen storage cardiomyopathy caused by a PRKAG2 mutation.
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Histopathologically there are markedly vacuolated cardiomyocytes. These cells contain PAS positive granules and a PAS- diastase (PAS-D) will be negative. This entity is a mimicker of hypertrophic cardiomyopathy.
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