Impact of Cardio-Renal Syndrome on Adverse Outcomes in Patients With Fabry Disease in a Long-Term Follow-Up

Int J Cardiol. 2017 Dec 15;249:261-267. doi: 10.1016/j.ijcard.2017.09.027. Epub 2017 Sep 19.


Aims: Fabry disease (FD) is a rare X-linked lysosomal storage disease with a deficiency of α-galactosidase A leading to progressive sphingolipid accumulation in different organs, among them heart and kidney. We evaluated the impact of cardio-renal syndrome (CRS) on the incidence of major cardiovascular complications and death in a prospective FD cohort.

Methods and results: A total of 104 genetically proven FD patients were annually followed at the University Hospitals Zurich and Bern. The main outcome was a composite of incident renal replacement therapy (RRT), hospitalisation due to decompensated Heart Failure, new onset atrial fibrillation, pacemaker/ICD implantation, stroke/TIA and death. Estimated glomerular filtration rate (eGFR) and left ventricular myocardial mass index (LVMMI) where explored as the primary exposure variables. During the median follow-up of 103 [59-155] months, events occurred in 27 patients. In a Cox regression analysis, both higher LVMMI and lower eGFR were independently associated with a greater risk of developing adverse events after adjustment for multiple confounders (HR 1.67 [1.04-2.73] P=0.03 per SD increase in LVMMI, HR 0.45 [0.25-0.83], P=0.01 per SD decrease in eGFR). In patients with CRS, the risk to develop events was significantly increased if adjusted for demographics and RRT (HR 4.46 [1.07-18.62], P=0.04), approaching significance if additionally adjusted for hypertension (HR 4.05 [0.95-17.29], P=0.06). In Kaplan-Meier-Analysis, the poorest event-free survival was observed among patients with CRS.

Conclusions: CRS was associated with a high risk to develop cardiovascular complications and death, emphasizing the importance of its prevention and early recognition. A focus on cardio-reno-protective therapies is crucial.

Keywords: Cardio-renal syndrome; Fabry disease; Risk factors.

Publication types

  • Multicenter Study
  • Observational Study

MeSH terms

  • Adult
  • Aged
  • Cardio-Renal Syndrome / diagnosis*
  • Cardio-Renal Syndrome / mortality*
  • Cardiovascular Diseases / diagnosis
  • Cardiovascular Diseases / mortality
  • Cohort Studies
  • Fabry Disease / diagnosis*
  • Fabry Disease / mortality*
  • Female
  • Follow-Up Studies
  • Humans
  • Male
  • Middle Aged
  • Mortality / trends
  • Prospective Studies
  • Retrospective Studies
  • Switzerland / epidemiology
  • Time Factors
  • Treatment Outcome