Quantitative Myocardial Perfusion in Fabry Disease.

Area of Science:

• Cardiology
• Medical Imaging
• Genetics

Background:

• Fabry disease (FD) is an X-linked lysosomal storage disorder causing sphingolipid accumulation.
• Key cardiac issues in FD include storage, hypertrophy, inflammation, and fibrosis, detectable via cardiovascular magnetic resonance (CMR).
• Advancements in CMR perfusion mapping enable rapid quantification and assessment of microvascular dysfunction.

Purpose of the Study:

• To investigate the association between microvascular dysfunction in FD and myocardial storage, fibrosis, and edema.
• To quantify myocardial blood flow (MBF) using vasodilator stress perfusion mapping in FD patients.
• To explore the relationship between reduced MBF and cardiac structural and tissue characteristics.

Main Methods:

• A prospective observational study involving 44 FD patients and 27 healthy controls.
• Multiparametric CMR including vasodilator stress perfusion mapping was performed.
• Myocardial blood flow (MBF) was measured and correlated with other CMR-derived parameters.

Main Results:

• FD patients exhibited reduced stress MBF compared to controls, particularly those with left ventricular hypertrophy (LVH).
• Reduced stress MBF was more pronounced in the subendocardium.
• Late gadolinium enhancement and low native T1 were independently associated with reduced stress MBF across all FD patients.

Conclusions:

• FD patients demonstrate reduced myocardial perfusion, with greater impairment in the subendocardium and in those with LVH, storage, edema, and scar.
• Reduced perfusion is evident even in the absence of LVH, suggesting it may serve as an early indicator of FD.
• CMR perfusion mapping is a valuable tool for assessing microvascular dysfunction in Fabry disease.