lethal congenital glycogen storage disease of heart

A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated

A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36.

Signs and symptoms

• Increased myocardial glycogen content
• Congestive heart failure
• Bradycardia
• Cardiomegaly
• Myopathy
• Neonatal hypoglycemia
• Cardiomyopathy
• Cyanosis
• Pleural effusion
• ST segment elevation

Also known as: fatal congenital hypertrophic cardiomyopathy due to GSD; fatal congenital hypertrophic cardiomyopathy due to glycogenosis; fatal congenital nonlysosomal cardiac glycogenosis; phosphorylase kinase deficiency of heart