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Cardiac involvement in Fabry disease

Author : Sanofi
Editorial team

Cardiovascular disease is the leading cause of death in Fabry disease patients.1 Undiagnosed and untreated Fabry disease leads to progressive, irreversible, life-threatening heart injury.2,3

Think Fabry, think cardiac symptoms before serious complications occur4-6

Cardiac_Manifestations_Over_Time

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Adapted from Schiffmann R et al, 2009; Ortiz A et al, 2008; Germain DP, 2010; Ramaswami U et al, 2010; Eng CM et al, 2006; Tøndel C et al, 2013; and Banikazemi M et al, 2007.2,7-12
*Accumulation of GL-3 starts in utero.13
ESRD, end-stage renal disease; GL-3, globotriaosylceramide.

EKG abnormalities in Fabry disease include:2,14,15

  • Bradycardia, which is a common finding in adults and frequently present in children
  • Voltage criteria and repolarization changes related to left ventricular hypertrophy and/or remodeling
  • ST segment depression
  • T-wave inversions
  • Shortened P-wave duration, which is one of the earliest signs of cardiac involvement6
  • Enlarged QRS complex and prolonged QTc intervals, which have been associated with advancing Fabry disease6

You SHOULD screen high-risk patients to exclude Fabry disease from differential diagnosis2

Adapted from 2023 ESC Guidelines for the management of cardiomyopathies.16

Safety

  1. Baig S et al. Europace 2018; 20: f153–f161.

  2. Germain DP. Orphanet J Rare Dis 2010; 5:30.

  3. Desnick RJ et al. In: Valle D, Beaudet AL, Vogelstein B, et al, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2014. https://ommbid.mhmedical.com/content.aspx?sectionid=225546984&bookid=2709&Resultclick=2. Accessed: November 2024.

  4. Seydelmann N et al. Best Pract Res Clin Endocrinol Metab. 2015;29(2):195-204. 

  5. Chimenti C et al. Hum Pathol. 2015;46(11):1760-1768.

  6. Namdar M. Front Cardiovasc Med. 2016;3:1-7.

  7. Eng CM et al. Genet Med. 2006;8(9):539-548.

  8. Tøndel C et al. J Am Soc Nephrol. 2013;24(1):37-148.

  9. Schiffmann R et al. Nephrol Dial Transplant. 2009;24(7):2102-2111. 

  10. Ortiz A et al. Nephrol Dial Transplant. 2008;23(5)1600-1607. 

  11. Ramaswami U et al. Clin J Am Soc Nephrol. 2010;5(2):365-370. 

  12. Banikazemi M et al. Ann Intern Med. 2007;146(2):77-86.

  13. Tøndel C et al. Nephron. 2015;129(1):16-21. 

  14. Pieroni M et al. J Am Coll Cardiol. 2021;77(7):923-936. . 

  15. Wilson HC et al. Am J Cardiol. 2017;251-255.

  16. Arbelo E et al. Eur Heart J 2023; 44(37): 3503–3626.

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MAT-BE-2500570 (ver. 1) 05/2025