Disease severity and lyso-Gb3 are associated with early echocardiographic markers of cardiac involvement in Fabry disease: a single-center observational study
4 affiliations
- 1Department of Endocrinology and Metabolism, Gaziantep University Faculty of Medicine Hospital, Gaziantep, Türkiye
- 2Department of Endocrinology and Metabolism, SANKO University Faculty of Medicine Hospital, Gaziantep, Türkiye
- 3Department of Cardiology, Gaziantep University Faculty of Medicine, Gaziantep, Türkiye
- 4Department of Biostatistics, Gaziantep University, Gaziantep, Türkiye
Abstract
Background: Cardiac involvement in Fabry disease often begins with subtle functional abnormalities before overt hypertrophy or systolic dysfunction becomes evident. Identifying early echocardiographic markers associated with disease burden may improve risk stratification in this rare disorder.
Methods: In this single-center cross-sectional observational study, 19 genetically confirmed Fabry disease patients receiving stable enzyme replacement therapy underwent comprehensive clinical, biochemical, and echocardiographic evaluation. Disease severity was assessed using the Mainz Severity Score Index (MSSI), and plasma lyso-globotriaosylsphingosine (Lyso-Gb3) levels were measured by LC–MS/MS. Associations between MSSI, Lyso-Gb3, and echocardiographic parameters reflecting early cardiac dysfunction were analyzed.
Results: The mean MSSI score was 26.1 ± 14.2, and plasma Lyso-Gb3 levels were markedly elevated. Higher MSSI scores were associated with increased E/e′ septal (r = 0.52, p = 0.021), E/e′ average (r = 0.51, p = 0.027), and tricuspid regurgitation velocity (r = 0.60, p = 0.006). Plasma Lyso-Gb3 levels correlated positively with left ventricular mass index (r = 0.60, p = 0.031), posterior wall thickness (r = 0.62, p = 0.023), and tricuspid regurgitation velocity (r = 0.80, p = 0.001), and negatively with left ventricular ejection fraction (r = − 0.72, p = 0.005). These associations were observed despite preserved systolic function in most patients.
Conclusions: Disease severity assessed by MSSI and circulating Lyso-Gb3 levels are associated with early functional and structural echocardiographic abnormalities in Fabry disease. Incorporating these measures into routine evaluation may facilitate earlier identification of cardiac involvement and support individualized monitoring strategies in this rare disease population.
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BibTeX
@article{mitil2026disease,
title = {{Disease severity and lyso-Gb3 are associated with early echocardiographic markers of cardiac involvement in Fabry disease: a single-center observational study}},
author = {Deniz Mitil and Zeynel Abidin Sayiner and Gökhan Altunbaş and Merve Binicier İnce and Kayahan Tekinşen and İlkay Doğan},
journal = {Orphanet Journal of Rare Diseases},
year = {2026},
month = jul,
doi = {10.1186/s13023-026-04511-2},
url = {https://doi.org/10.1186/s13023-026-04511-2},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Disease severity and lyso-Gb3 are associated with early echocardiographic markers of cardiac involvement in Fabry disease: a single-center observational study
AU - Deniz Mitil
AU - Zeynel Abidin Sayiner
AU - Gökhan Altunbaş
AU - Merve Binicier İnce
AU - Kayahan Tekinşen
AU - İlkay Doğan
PY - 2026
DA - 2026/07/29
JO - Orphanet Journal of Rare Diseases
DO - 10.1186/s13023-026-04511-2
UR - https://doi.org/10.1186/s13023-026-04511-2
AB - Background: Cardiac involvement in Fabry disease often begins with subtle functional abnormalities before overt hypertrophy or systolic dysfunction becomes evident. Identifying early echocardiographic markers associated with disease burden may improve risk stratification in this rare disorder. Methods: In this single-center cross-sectional observational study, 19 genetically confirmed Fabry disease patients receiving stable enzyme replacement therapy underwent comprehensive clinical, biochemical, and echocardiographic evaluation. Disease severity was assessed using the Mainz Severity Score Index (MSSI), and plasma lyso-globotriaosylsphingosine (Lyso-Gb3) levels were measured by LC–MS/MS. Associations between MSSI, Lyso-Gb3, and echocardiographic parameters reflecting early cardiac dysfunction were analyzed. Results: The mean MSSI score was 26.1 ± 14.2, and plasma Lyso-Gb3 levels were markedly elevated. Higher MSSI scores were associated with increased E/e′ septal (r = 0.52, p = 0.021), E/e′ average (r = 0.51, p = 0.027), and tricuspid regurgitation velocity (r = 0.60, p = 0.006). Plasma Lyso-Gb3 levels correlated positively with left ventricular mass index (r = 0.60, p = 0.031), posterior wall thickness (r = 0.62, p = 0.023), and tricuspid regurgitation velocity (r = 0.80, p = 0.001), and negatively with left ventricular ejection fraction (r = − 0.72, p = 0.005). These associations were observed despite preserved systolic function in most patients. Conclusions: Disease severity assessed by MSSI and circulating Lyso-Gb3 levels are associated with early functional and structural echocardiographic abnormalities in Fabry disease. Incorporating these measures into routine evaluation may facilitate earlier identification of cardiac involvement and support individualized monitoring strategies in this rare disease population.
SN - 1750-1172
ER -