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Background <p>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.</p> Methods <p>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.</p> Results <p>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 (<i>r</i> = 0.52, <i>p</i> = 0.021), E/e′ average (<i>r</i> = 0.51, <i>p</i> = 0.027), and tricuspid regurgitation velocity (<i>r</i> = 0.60, <i>p</i> = 0.006). Plasma Lyso-Gb3 levels correlated positively with left ventricular mass index (<i>r</i> = 0.60, <i>p</i> = 0.031), posterior wall thickness (<i>r</i> = 0.62, <i>p</i> = 0.023), and tricuspid regurgitation velocity (<i>r</i> = 0.80, <i>p</i> = 0.001), and negatively with left ventricular ejection fraction (<i>r</i> = − 0.72, <i>p</i> = 0.005). These associations were observed despite preserved systolic function in most patients.</p> Conclusions <p>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.</p>

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Disease severity and lyso-Gb3 are associated with early echocardiographic markers of cardiac involvement in Fabry disease: a single-center observational study

  • 期刊论文

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  • 发表日期：

    2026年7月29日

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  • Deniz Mitil,
  • Zeynel Abidin Sayiner,
  • Gökhan Altunbaş,
  • Merve Binicier İnce,
  • Kayahan Tekinşen,
  • İlkay Doğan

摘要

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.