Clinical Research Directory

Patients with Fabry disease (1) Inclusion Criteria: * Male and female individuals with a genetically-verified diagnosis of Fabry disease * ≥ 18 years of age * Able to give informed consent Exclusion Criteria: * Any contraindication against a pharmacologically induced rest-stress PET/CT protocol according to local safety procedures such as acute coronary syndrome, severe bronchospasm, severe chronic obstructive pulmonary disease, cardiac arrhythmia. * Any contraindication for MRI according to standard checklist used in clinical routine, including claustrophobia or metallic foreign bodies, metallic implants, internal electrical devices, or permanent makeup/tattoos that cannot be declared MR compatible. * Pregnancy Age and sex-matched healthy controls (2) Inclusion Criteria: * ≥ 18 years of age * Able to give informed consent Exclusion Criteria: * A genetically-verified diagnosis of Fabry disease. * Family member to a patient with a genetically-verified diagnosis of Fabry disease * Cancer expected to influence life expectancy. * Known heart failure, previous apoplexy or previously established kidney disease. * Initiation or change of antihypertensive therapy within 3 months of enrollment. * Known LVH as evaluated on echocardiography * Any contraindication for a pharmacologically induced stress PET/CT protocol according to local safety procedures such as acute coronary syndrome, severe bronchospasm, severe chronic obstructive pulmonary disease, cardiac arrhythmia. * Any contraindication for MRI according to standard checklist used in clinical routine, including claustrophobia or metallic foreign bodies, metallic implants, internal electrical devices, or permanent makeup/tattoos that cannot be declared MR compatible. * Pregnancy