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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

ECG

ECG

LVH

Short PQ interval in young patients

Atrioventricular blocks in adult patients

Bradycardia

Chronotropic incompetence

ECHOCARDIOGRAM

ECHOCARDIOGRAM

LVH with normal systolic function

Disproportionate hypertrophy of papillary muscles14

Mitral and aortic valve thickening with mild-to moderate regurgitation

Reduced global longitudinal strain

CMR

CMR

Basal-inferolateral late gadolinium enhancement

Low native T1 (caution with ‘pseudo normalization’ in areas affected by fibrosis)

High focal/global T2

LABORATORY

LABORATORY

Elevated high-sensitivity troponin

Elevated NT-proBNP

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