Echocardiographic and clinical findings in patients with Fabry disease during long-term enzyme replacement therapy: a nationwide Danish cohort study

Scand Cardiovasc J. 2017 Aug;51(4):207-216. doi: 10.1080/14017431.2017.1332383. Epub 2017 May 25.


Objectives: In patients with Fabry disease (FD), left ventricular hypertrophy and arrhythmias are frequently observed and cardiac involvement is the leading cause of death. Long-term efficacy of enzyme replacement therapy (ERT) on cardiac involvement is unclear. We assessed and compared long-term progression of cardiac involvement according to ERT and non-ERT.

Methods: We retrospectively assessed and compared long-term progression of cardiac involvement in adult patients with FD in the nationwide Danish cohort. We followed clinical signs, symptoms and findings by echocardiography, electrocardiography and Holter-monitoring.

Results: We included 66 patients; 47 patients (27 women) received ERT (ERT group) and 19 patients (15 women) did not (non-ERT group). The groups were followed for a median of 8 [0-12] years and 6 [0-13] years, respectively. Comparison between ERT and non-ERT receiving patients by left ventricular mass (echocardiographic assessment) and Sokolow-Lyon voltage- and Cornell product criteria (electrocardiographic assessment) revealed no significant differences. In the ERT group, we observed no change in left ventricular mass but a decrease in Sokolow-Lyon voltage- and Cornell product criteria from baseline to follow-up; 30 mm [15-53] vs. 25 mm [3-44], p < 0.005 and 1710 mm·ms [480-3740] vs. 1520 mm·ms [550-5740], p < .05, respectively. There were no changes within the non-ERT group. During follow-up, cardiac symptoms and use of cardiovascular procedures and -medication increased significantly in the ERT group, whereas no differences were observed within the non-ERT group.

Discussion: We raise concerns regarding the efficacy and benefit of ERT on cardiac involvement in Fabry disease and stress the need for further research.

Keywords: Fabry disease; enzyme replacement therapy; familial cardiomyopathies; hypertrophic cardiomyopathy.

Publication types

  • Comparative Study

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Arrhythmias, Cardiac / diagnosis
  • Arrhythmias, Cardiac / etiology
  • Denmark
  • Disease Progression
  • Echocardiography*
  • Electrocardiography, Ambulatory
  • Enzyme Replacement Therapy*
  • Fabry Disease / complications
  • Fabry Disease / diagnostic imaging
  • Fabry Disease / drug therapy*
  • Female
  • Humans
  • Hypertrophy, Left Ventricular / diagnostic imaging*
  • Hypertrophy, Left Ventricular / etiology
  • Isoenzymes / therapeutic use*
  • Male
  • Middle Aged
  • Predictive Value of Tests
  • Retrospective Studies
  • Time Factors
  • Treatment Outcome
  • Young Adult
  • alpha-Galactosidase / therapeutic use*


  • Isoenzymes
  • alpha-Galactosidase
  • agalsidase beta

Supplementary concepts

  • Fabry Disease, Cardiac Variant