- Artikel
- Bron: Campus Sanofi
- 16 sep 2025
Cardiac involvement in Fabry disease
Think Fabry, think cardiac symptoms before serious complications occur4-6
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
LVH
Short PQ interval in young patients
Atrioventricular blocks in adult patients
Bradycardia
Chronotropic incompetence
ECHOCARDIOGRAM
LVH with normal systolic function
Disproportionate hypertrophy of papillary muscles14
Mitral and aortic valve thickening with mild-tomoderate regurgitation
Reduced global longitudinal strain
CMR
Basal-inferolateral late gadolinium enhancement
Low native T1 (caution with ‘pseudo normalization’ in areas affected by fibrosis)
High focal/global T2
LABORATORY
Elevated high-sensitivity troponin
Elevated NT-proBNP
Adapted from 2023 ESC Guidelines for the management of cardiomyopathies.16
Fabry disease
Fabry disease is an X-linked lysosomal storage disease due to a defect in the gene encoding the lysosomal enzyme alpha-galactosidase A (α-Gal A), causing progressive cellular accumulation of the substrate globotriaosylceramide (GL-3) and globo-triaosylsphingosine (lyso-GL-3).
How to diagnose Fabry
In patients with unexplained hypertrophic cardiomyopathy (HCM), consider testing with an HCM panel that includes the GLA gene.
When to treat
Think Fabry, think early treatment to help slow or prevent life-threatening disease progression.
Fabry disease
Fabry disease is an X-linked lysosomal storage disease due to a defect in the gene encoding the lysosomal enzyme alpha-galactosidase A (α-Gal A), causing progressive cellular accumulation of the substrate globotriaosylceramide (GL-3) and globo-triaosylsphingosine (lyso-GL-3).
How to diagnose Fabry
In patients with unexplained hypertrophic cardiomyopathy (HCM), consider testing with an HCM panel that includes the GLA gene.
When to treat
Think Fabry, think early treatment to help slow or prevent life-threatening disease progression.
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Baig S et al. Europace 2018; 20: f153–f161.
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Germain DP. Orphanet J Rare Dis 2010; 5:30.
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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.
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Ortiz A et al. Nephrol Dial Transplant. 2008;23(5)1600-1607.
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Ramaswami U et al. Clin J Am Soc Nephrol. 2010;5(2):365-370.
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Banikazemi M et al. Ann Intern Med. 2007;146(2):77-86.
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Tøndel C et al. Nephron. 2015;129(1):16-21.
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Pieroni M et al. J Am Coll Cardiol. 2021;77(7):923-936. .
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Wilson HC et al. Am J Cardiol. 2017;251-255.
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Arbelo E et al. Eur Heart J 2023; 44(37): 3503–3626.
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MAT-BE-2500570 (ver. 1) 05/2025