Characterisation of Heart Involvement in Fabry Disease With T1 Mapping

Fabry disease is a rare lysosomal storage disorder characterised by a genetic deficiency in the α-galactosidase enzyme. This deficiency leads to a progressive accumulation of a fatty substance, called glycosphingolipids within a specific part of our cells called the lysosome. This lysosomal accumulation can have devastating effects on patients with Fabry disease, affecting multiple organs. Heart involvement is particularly feared because it is the leading cause of death in Fabry disease. Cardiovascular magnetic resonance imaging (cardiac MRI) is a relatively new heart imaging technique. A cardiac MRI technique called T1 mapping can measure the magnetic relaxation properties of heart tissue. T1 mapping is important in Fabry disease because glycosphingolipids have distinct magnetic relaxation properties. The abnormal build up of glycosphingolipid within the heart may be detectable using T1 mapping. This accumulation of glycosphingolipid could identify an earlier form of Fabry disease. Moreover, it is postulated that T1 mapping may inform prognosis and response to therapy. Whilst promising, further investigation and development of this innovative technique in Fabry disease is required. This study aims to find out more about T1 mapping in Fabry disease. Patients referred for clinical cardiac MRI scanning will also undergo T1 mapping. T1 mapping results will be correlated with other markers of disease severity. This will allow heart muscle T1 to be determined in a larger population of Fabry patients than currently exists in the literature and T1 to be characterised across a wider range of Fabry disease severity than currently exists in the literature.