Increased cardiac involvement in Fabry disease using blood-corrected native T1 mapping

Area of Science:

• Cardiology
• Medical Imaging
• Genetics

Background:

• Fabry disease (FD) is a rare lysosomal storage disorder.
• FD leads to sphingolipid accumulation in the heart, detectable by cardiovascular magnetic resonance (CMR) as reduced native T1.
• Myocardial T1 measurements are affected by blood signal, impacting precision and accuracy.

Purpose of the Study:

• To investigate if blood-correction of myocardial native T1 enhances the detection of cardiac involvement in FD.
• To determine if blood-correction reclassifies FD patients with previously normal T1 values.

Main Methods:

• A multicenter study involving 218 FD patients and 117 healthy controls.
• Cardiac involvement was defined as native T1 values 2 standard deviations below site-specific healthy control means.
• Myocardial T1 was measured with and without blood signal correction.

Main Results:

• Blood-correction increased the proportion of FD patients with low T1 from 62% to 67%.
• 13 patients initially classified as normal were reclassified to low T1 after blood-correction.
• Of the reclassified patients, 46% showed other signs of cardiac involvement like late gadolinium enhancement or left ventricular hypertrophy.

Conclusions:

• Blood-correction of myocardial native T1 improves precision and increases the identification of cardiac involvement in FD.
• This technique may facilitate earlier detection and treatment initiation for Fabry disease.
• Further prospective studies are warranted to validate these findings.