VCAM-1 as a biomarker of early cardiac phenotypic changes in Fabry disease.

Authors

Danielli Oliveira da Costa Lino, Gdayllon Cavalcante Meneses, Igor Moreira de Almeida, Alice Maria Costa Martins, Amanda Jorge de Sousa Vasconcelos, Carlos José Mota de Lima, Ricardo Paulo de Sousa Rocha, Elizabeth De Francesco Daher, Geraldo Bezerra da Silva Junior

Published in

BMC cardiovascular disorders. Jul 06, 2026. Epub Jul 06, 2026.

Abstract

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency, leading to globotriaosylceramide accumulation, endothelial activation, inflammation, and progressive cardiac involvement. In this exploratory cross-sectional study, we investigated whether vascular cell adhesion molecule-1 (VCAM-1), an endothelial activation biomarker, is associated with early cardiac phenotypic changes in FD.
This single-center cross-sectional study included 14 genetically confirmed FD adults from one family carrying the GLA p.Arg363His variant and 30 age- and kidney-function-matched healthy controls for biomarker comparisons. FD participants underwent clinical assessment, 12-lead electrocardiography, transthoracic echocardiography with global longitudinal strain (GLS), and cardiac magnetic resonance (CMR) including native T1 mapping and late gadolinium enhancement. Serum VCAM-1, interleukin-6 (IL-6), and syndecan-1 were measured. Group comparisons used Mann-Whitney and Fisher exact tests; correlations used Spearman coefficients.
Median age was 30.5 (24-48) years, and 78.6% were female. Only one participant (7.1%) showed concentric left ventricular hypertrophy, whereas diastolic dysfunction was present in 42.9%, and global or segmental GLS abnormalities in 57.2%. CMR showed no increased LV mass, but papillary muscle abnormalities were frequent (57.2%); LGE and low native T1 were present in 14.3% each. VCAM-1 was markedly higher in FD than controls [2634.2 (2048.7-3173.6) vs. 671.7 (490.3-765.1) ng/mL; p < 0.001]. Within FD participants, VCAM-1 was higher among those with ventricular remodeling or incipient hypertrophy (p = 0.043) and showed a borderline association with less negative GLS values (rho = 0.526; p = 0.053). VCAM-1 also correlated with longer symptom duration (rho = 0.566; p = 0.044). IL-6, but not syndecan-1, was higher in FD than controls.
VCAM-1 was substantially elevated in this FD family cohort and was associated with early structural and functional cardiac markers before overt hypertrophy. These results do not yet justify changes in clinical practice, but they support VCAM-1 as a candidate biomarker for future longitudinal studies of early Fabry cardiomyopathy.

PMID:
42410335
Bibliographic data and abstract were imported from PubMed on 07 Jul 2026.

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