title: Ventricular pre-excitation and cardiac hypertrophy mimicking hypertrophic cardiomyopathy in a Turkish family with a novel PRKAG2 mutation.
abstract: BACKGROUND
  Mutations in PRKAG2, the gene for the gamma2 regulatory subunit of AMP-activated protein kinase, cause cardiac hypertrophy and electrophysiological abnormalities. We identified a novel mutation in PRKAG2 causing familial ventricular pre-excitation and severe cardiac hypertrophy.
  
  
  RESULTS
  We studied 30 members of one family and 120 healthy controls. Molecular analysis of PRKAG2 gene revealed one missense mutation in exon 14 which was confirmed by restriction enzyme digestion. We identified a G to A transition, resulting in a Glu506Lys substitution in the PRKAG2 gene in 8 of the family members, who all had cardiac hypertrophy and ventricular pre-excitation. High incidence of right ventricular hypertrophy and left ventricular outflow tract obstruction are other prominent features of this novel PRKAG2 mutation. Family members without mutation had no cardiac disease. The 120 unrelated healthy individuals did not show this mutation.
  
  
  CONCLUSIONS
  Coexistence of unexplained ventricular hypertrophy and pre-excitation should prompt the diagnosis of PRKAG2 mutations and these patients should be referred for genetic analysis. The possible alteration of AMP-activated protein kinase activity due to genetic defects in PRKAG2 may serve as a template for developing more specific therapies in the treatment of patients with this mutation.
authors.affiliation: Kosuyolu Heart and Research Hospital, Department of Cardiology, Istanbul, Turkey. fbayrak@yeditepe.edu.tr
authors.forename: Fatih
authors.initials: F
authors.lastname: Bayrak
authors.forename: Evrim
authors.initials: E
authors.lastname: Komurcu-Bayrak
authors.forename: Bulent
authors.initials: B
authors.lastname: Mutlu
authors.forename: Gokhan
authors.initials: G
authors.lastname: Kahveci
authors.forename: Yelda
authors.initials: Y
authors.lastname: Basaran
authors.forename: Nihan
authors.initials: N
authors.lastname: Erginel-Unaltuna
mesh_terms: D055372:AMP-Activated Protein Kinases; D000293:Adolescent; D000328:Adult; D006332:Cardiomegaly / Q000150:complications / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000175:diagnosis; D016022:Case-Control Studies; D003937:Diagnosis, Differential; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009097:Multienzyme Complexes / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D011226:Pre-Excitation Syndromes / Q000150:complications*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D014421:Turkey; D044465:White People / Q000235:genetics
chemical_list: D009097:Multienzyme Complexes; D017346:Protein Serine-Threonine Kinases; D055372:AMP-Activated Protein Kinases