Key result
Cardiovascular phenotypic screening identifies Fabry disease in ~0.4% of targeted patients.
Why the study?
Does cardiovascular phenotypic screening using LVMI with diastolic dysfunction or electrical abnormality detect late-onset Fabry disease in patients with cardiovascular phenotype?
Cohort (n=1,702)
Yes
Does cardiovascular phenotypic screening using LVMI with diastolic dysfunction or electrical abnormality detect late-onset Fabry disease in patients with cardiovascular phenotype?
Cardiovascular phenotypic screening using LVMI with diastolic dysfunction or electrical abnormality can detect late-onset Fabry disease early, even without severe LVH, although the overall prevalence is low (0.4%).
Background Fabry disease in cardiac phenotype typically presents left ventricular hypertrophy (LVH) of 13mm or more. Cardiovascular screening of Fabry disease limited to LVH may underestimate mild or moderate cardiac phenotype with less progressed LVH. Purpose We investigated the prevalence of Fabry disease in patients with cardiac phenotype based on left ventricular mass index (LVMI) and electrical findings. Methods This is a multi-centre, prospective study of cardiovascular screening cohort for Fabry disease (2017–2024). Patients were eligible if they had LVMI ≥115g/m2 (≥95g/m2 in female) with diastolic dysfunction in echocardiography or electrical abnormalities in electrocardiography, or had a family history of Fabry disease. Leukocyte α-galactosidase A activity or/and plasma lyso-Gb3 assay was assessed, and consecutive GLA gene sequencing was performed to confirm Fabry disease. Results A total of 1,702 patients were enrolled from 7 institutions. Mean age was 63.1 years old, and 982 (57.7%) were female. Among Seven (0.4%) patients who were confirmed as Fabry disease, 4 had left ventricular wall thickness ≥13mm, and 6 were indicated for enzyme replacement therapy. Compared with patients without Fabry disease (n=1,695), those with Fabry disease had elevated lyso-Gb3 (6.5 ± 3.3 vs. 1.0 ± 0.1 ng/mL, p=0.004), lower serum creatinine (0.8 ± 0.2 vs. 1.2 ± 1.2 mg/dL, p=0.009), shorter PR interval (139.0 ± 26.8 vs. 173.3 ± 31.5 msec, p=0.03), and higher left ventricular ejection fraction (60.0 ± 2.7 vs. 53.3 ± 9.8 %, p=0.002). However, there is no significant difference in intraventricular septum thickness between two group (11.9 ± 3.2 vs. 11.8 ± 3.2 mm). Conclusion This large-scale prospective study suggests that cardiovascular phenotypic screening using LVMI with diastolic dysfunction or electrical abnormality may provide early detection of late-onset Fabry disease, regardless of LVH, although the prevalence is relatively low.
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Choi et al. (2025) conducted a cohort in Fabry disease (n=1,702). Cardiovascular phenotypic screening based on LVMI and electrical findings was evaluated on Prevalence of Fabry disease. Cardiovascular phenotypic screening using LVMI with diastolic dysfunction or electrical abnormality identified Fabry disease in 0.4% of patients.
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