the Role of cArdiac Inflammation, endoThelial Dysfunction, and FIbrosis in fabrY Disease

Summary

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.

Eligibility

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

Conditions3

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