Glycogen Storage Disease Because of a PRKAG2 Mutation Causing Severe Biventricular Hypertrophy and High-Grade Atrio-Ventricular Block

Circ Heart Fail. 2016 Aug;9(8):e003367. doi: 10.1161/CIRCHEARTFAILURE.116.003367.
No abstract available

Keywords: cardiomyopathies; genetics; heart diseases; hypertrophy; microscopy, electron; syncope.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • AMP-Activated Protein Kinases / genetics*
  • Adrenergic beta-Antagonists / therapeutic use
  • Adult
  • Atrioventricular Block / diagnostic imaging
  • Atrioventricular Block / genetics*
  • Atrioventricular Block / physiopathology
  • Atrioventricular Block / therapy
  • Biopsy
  • Cardiac Pacing, Artificial
  • DNA Mutational Analysis
  • Defibrillators, Implantable
  • Echocardiography, Doppler
  • Electric Countershock / instrumentation
  • Electrocardiography
  • Genetic Predisposition to Disease
  • Glycogen Storage Disease / complications
  • Glycogen Storage Disease / diagnosis
  • Glycogen Storage Disease / enzymology
  • Glycogen Storage Disease / genetics*
  • Heredity
  • Humans
  • Hypertrophy, Left Ventricular / diagnostic imaging
  • Hypertrophy, Left Ventricular / genetics*
  • Hypertrophy, Left Ventricular / physiopathology
  • Hypertrophy, Left Ventricular / therapy
  • Hypertrophy, Right Ventricular / diagnostic imaging
  • Hypertrophy, Right Ventricular / genetics*
  • Hypertrophy, Right Ventricular / physiopathology
  • Hypertrophy, Right Ventricular / therapy
  • Magnetic Resonance Imaging
  • Male
  • Mutation, Missense*
  • Pedigree
  • Phenotype
  • Treatment Outcome

Substances

  • Adrenergic beta-Antagonists
  • PRKAG2 protein, human
  • AMP-Activated Protein Kinases

Grants and funding