the Role of cArdiac Inflammation, endoThelial Dysfunction, and FIbrosis in fabrY Disease
The overall objective of this study is to investigate Fabry-related cardiomyopathy and the use of native T1-mapping, coronary microvascular function, cardiac inflammation, and cardiac injury in an effort to improve the ability to detect disease. The study aims to achieve this by: 1. Investigating the association between cardiac inflammation, fibrosis, and injury against the distribution and degree of microvascular disease in patients with Fabry disease with and without left ventricular hypertrophy (LVH) using cardiac magnetic resonance (CMR) imaging and 82Rubidium Positron emission tomography and computer tomography (82Rb-PET/CT). 2. Using an extensive, in-depth biomarker blood panel to investigate the pathological pathways associated with Fabry disease and Fabry-related cardiomyopathy.
• Male and female individuals with a genetically-verified diagnosis of Fabry disease
• ≥ 18 years of age
• Able to give informed consent
• ≥ 18 years of age
• Able to give informed consent