Molecular Imaging in Fabry Disease of the Heart

Summary

Better methods for early detection of cardiac involvement in Fabry disease are needed to inform clinical management decisions that can help prevent or slow the progression of cardiac complications. In the Molecular Imaging of Inflammation in Fabry Disease of the Heart study, the investigators will test the use of 68Ga-DOTATATE PET/MRI for identifying myocardial inflammation in patients with Fabry disease.

Eligibility

Inclusion Criteria:

* Male or female participants \>18 years old
* Able to give written, informed consent and to lie flat
* Have Fabry disease based on molecular diagnosis (at a minimum, documented enzyme deficiency in males and documented pathogenic mutation in females)
* Cardiac MRI within 3 years documenting cardiac involvement in Fabry disease (left ventricular hypertrophy and/or late gadolinium enhancement and/or myocardial oedema)

Exclusion Criteria:

* Any other diagnosis associated with cardiac muscle inflammation, including myocarditis
* Previous gene therapy
* Contra-indication to MRI scanning or intravenous gadolinium contrast (prior contrast reaction or chronic kidney disease with eGFR \<30 mL/min/1.73 m2)
* Women of child bearing potential not using adequate contraception
* Uncontrolled atrial fibrillation
* Any medical condition, in the opinion of the investigator, that prevents the participant from lying flat during scanning, or from participating in the study

Conditions2

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