Severe hypertrophic cardiomyopathy in an infant with a novel PRKAG2 gene mutation: potential differences between infantile and adult onset presentation.
Hypertrophic cardiomyopathy (HCM) is a heterogeneous disorder characterized by thickening of the heart and an increased incidence of sudden death. This study is aimed to determine the genetic cause of severe cardiac hypertrophy in an infant. An infant was assigned a diagnosis of ventricular preexcitation and severe biventricular HCM requiring septal myectomy. Genetic testing showed a novel heterozygous E506Q mutation of the adenosine monophosphate (AMP)-activated protein kinase (PRKAG2) gene. Endomyocardial biopsy samples did not demonstrate significant glycogen accumulation. Hypertrophic cardiomyopathy due to PRKAG2 mutations may have a degree of cardiac hypertrophy exceeding that expected from observed amounts of glycogen deposition.
Division of Pediatric Cardiology, University of Michigan, Ann Arbor, USA. kellybp@med.umich.edu
Brendan P
BP
Kelly
Mark W
MW
Russell
James R
JR
Hennessy
Gregory J
GJ
Ensing
D055372:AMP-Activated Protein Kinases / Q000235:genetics*; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D004562:Electrocardiography; D006003:Glycogen / Q000032:analysis; D006801:Humans; D007223:Infant; D008297:Male; D009206:Myocardium / Q000737:chemistry / Q000648:ultrastructure; D012307:Risk Factors
D006003:Glycogen; C526223:PRKAG2 protein, human; D055372:AMP-Activated Protein Kinases