Fabry Cardiomyopathy: Identification of Early Myocardial Structural and Tissue Abnormalities Using Multiparametric MRI (FIESTA-MRI)

Fabry Cardiomyopathy: Identification of Early Myocardial Structural and Tissue Abnormalities Using Multiparametric MRI

Fabry Cardiomyopathy: Identification of Early Myocardial Structural and Tissue Abnormalities Using Multiparametric MRI

Vancouver General Hospital, The Cleveland Clinic, Icahn School of Medicine at Mount Sinai, Mayo Clinic, University of Colorado, Denver, IRCCS Policlinico S. Donato, Alberta Health services, Libin Cardiovascular Institute of Alberta

This study will evaluate whether cardiac MRI T1 and T2 mapping improves our ability to detect early abnormalities in the heart in patients with Fabry disease and identify patients at increase risk of adverse events.

Fabry disease is an inherited disorder that affects many organs in the body, including the heart. Men and women are both affected, with average life expectancy reduced by 10-20 years. The heart muscle can become thick and scarred in over half of patients, eventually resulting in heart failure, abnormal rhythm and death. The focus of this study will be on improving the detection of early heart disease before irreversible damage has occurred in order to improve patient outcomes. It is hypothesized that new cardiac MRI techniques called T1 and T2 mapping will improve the ability to detect early abnormalities in the heart. Early detection of cardiac disease may enable a personalized treatment approach, potentially improving patient outcomes. The results of the study will identify which patients might benefit from early initiation of treatment to prevent bad outcomes in the future by using cardiac MRI to identify those at higher risk.

Additional sequences will be performed during routine clinical cardiac MRI and additional blood samples will be collected during routine blood work.

Cardiac MRI including T1/T2 mapping, ECG and blood biomarker evaluation will be performed at baseline and follow-up

MACE will be assessed as a composite endpoint defined by the development on one or more of events such as sustained ventricular tachycardia (VT), severe bradycardia, heart failure hospitalization and cardiac death.

FAbry STabilization indEX (FASTEX) score will be evaluated to assess clinical stability or progression of Fabry disease at follow-up. FASTEX score change of ≥20% will be considered an indication of clinical worsening at follow-up. Minimum value 0%. No maximum value. Higher score change indicates worse outcome.

Inclusion Criteria: Fabry disease; Age ≥ 18 years. Exclusion Criteria: History of myocardial infarction; Contraindication to MRI.