A novel missense mutation for Fabry disease detected by echocardiographic screening in left ventricular hypertrophy patients

J Cardiovasc Med (Hagerstown). 2021 Jan;22(1):59-62. doi: 10.2459/JCM.0000000000001008.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • DNA Mutational Analysis
  • Echocardiography*
  • Exons
  • Fabry Disease / diagnostic imaging
  • Fabry Disease / genetics*
  • Fabry Disease / physiopathology
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Hypertrophy, Left Ventricular / diagnostic imaging
  • Hypertrophy, Left Ventricular / genetics*
  • Hypertrophy, Left Ventricular / physiopathology
  • Middle Aged
  • Mutation, Missense*
  • Phenotype
  • Predictive Value of Tests
  • Ventricular Function, Left / genetics*
  • Ventricular Remodeling / genetics*
  • alpha-Galactosidase / genetics*

Substances

  • GLA protein, human
  • alpha-Galactosidase

Supplementary concepts

  • Fabry Disease, Cardiac Variant