What question did this study set out to answer?

The aim is to evaluate the diagnostic performance of native T1 values in assessing glycosphingolipid accumulation in myocardial tissue related to Fabry disease.

April 24, 2026Insights into Imaging0 citationsOpen Access

Diagnostic performance of native T1 in grading histologically proven myocardial glycosphingolipid accumulation in Fabry disease

NGNicola Galea LMLivia Marchitelli GPGiacomo Pambianchi

Key Points

The aim is to evaluate the diagnostic performance of native T1 values in assessing glycosphingolipid accumulation in myocardial tissue related to Fabry disease.
Assessment of native T1 values using MRI imaging

Structured PICO

Does native T1 mapping by CMR accurately grade histologically proven myocardial glycosphingolipid accumulation in patients with Fabry disease?

Population

40 naïve Fabry disease patients (mean age 48.2, 37.5% male) diagnosed by α-GalA activity and GLA mutation analyses, who underwent CMR examination and endomyocardial biopsy.

Intervention

Native T1 (nT1) mapping by cardiac magnetic resonance (CMR) at 1.5-T

Comparator

Endomyocardial biopsy (EMB) assessing histological glycosphingolipid accumulation (GSL-A) severity (minimal, mild, moderate, severe)

Outcome

Diagnostic accuracy of nT1 in predicting the severity of glycosphingolipid accumulation (GSL-A) and correlation between nT1 values and GSL-Asurrogate

Native T1 mapping by CMR is a reliable, noninvasive surrogate biomarker that strongly correlates with histological glycosphingolipid accumulation in Fabry disease cardiomyopathy.

Abstract

Native T1 values are a valid biomarker of glycosphingolipid accumulation in myocardial tissue and correlate with accumulation degree. Midventricular interventricular septum is the preferred site for nT1 measurement, showing the best agreement with glycosphingolipid accumulation at endomyocardial biopsy. The use of native T1 in the setting of suspected cardiac Fabry disease will help to stratify disease severity, without the intrinsic risk of endomyocardial biopsy.

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