The Role of Cardiac Imaging in the Diagnosis and Management of Anderson-Fabry Disease

JACC Cardiovasc Imaging. 2019 Jul;12(7 Pt 1):1230-1242. doi: 10.1016/j.jcmg.2018.11.039.


Anderson-Fabry disease (AFD) is a rare X-linked inherited metabolic disorder which results in a deficiency or absence of the enzyme α-galactosidase A, leading to the accumulation of glycosphingolipids in various cells and organs including the heart. Cardiac involvement is common and results in increased myocardial inflammation, left ventricular hypertrophy (LVH), and myocardial fibrosis. Echocardiography and cardiovascular magnetic resonance (CMR) offer distinctive and often complementary use to assist in the diagnosis and monitoring pharmacologic therapy in AFD, including detection of the AFD cardiac phenotype, differentiation from other forms of LVH, and patient selection for therapeutic intervention. Advanced cardiac imaging holds promise in subclinical detection of AFD-related abnormalities as well as disease staging and prognostication.

Keywords: Anderson-Fabry disease; cardiovascular magnetic resonance; chaperone therapy; echocardiography; enzyme replacement therapy.

Publication types

  • Review

MeSH terms

  • Diagnosis, Differential
  • Echocardiography*
  • Fabry Disease / diagnostic imaging*
  • Fabry Disease / drug therapy
  • Fabry Disease / physiopathology
  • Female
  • Fibrosis
  • Humans
  • Hypertrophy, Left Ventricular / diagnostic imaging*
  • Hypertrophy, Left Ventricular / drug therapy
  • Hypertrophy, Left Ventricular / physiopathology
  • Magnetic Resonance Imaging*
  • Male
  • Myocardium / pathology
  • Patient Selection
  • Predictive Value of Tests
  • Prognosis
  • Ventricular Function, Left
  • Ventricular Remodeling

Supplementary concepts

  • Fabry Disease, Cardiac Variant