Prevalence of Cardiac Abnormalities in Fabry Disease: a Large CMR Study in Argentina

Laura Dragonetti, Marcelo Pietrani, Carlos Rivas, Diego Pérez de Arenaza, Eduardo Eyheremendy, Rebeca Kozzor, Ricardo García Mónaco, James Moon

Abstract


Abstract

Background: Cardiovascular magnetic resonance (CMR) can measure cardiac structure, function and characterize myocardial tissue. The full potential of CMR for Fabry disease (FD) is yet to be defined. The objective of the present work was to assess the clinical utility of CMR for the detection and classification of cardiac involvement in patients with FD.

Methods: This is retrospective observational study of CMR scans performed in 99 unique FD patients from 2 hospitals in Argentina between April 2005 and October 2013. Diagnosis of FD was confirmed by measurement of alpha galactosidase A activity on plasma and peripheral leukocytes (males) or genetic testing (females).

Results: Ninety nine FD patients (61 females and 38 males), mean age 35 SD 15 years, underwent CMR. Cardiac involvement was present in 56% of cases. Left ventricular hypertrophy (LVH) was present in 44% and left ventricular (LV) impairment in 8% (mean left ventricular ejection fraction 49%, range 40-54%). Late gadolinium enhancement (LGE) was present in 33% of cases and was more common with age and when LVH was present. Of the LVH patients, 59% had LGE compared to 13% without LVH (p<0.001).

Conclusion: CMR is a useful diagnostic tool in detecting and classifying cardiac involvement of FD, including the detection of patients with LGE before LVH occurs.


Keywords


Cardiovascular magnetic resonance; Fabry disease; Cardiomyopathy; Late gadolinium enhancement

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DOI: https://doi.org/10.17987/icfj.v9i0.387

Copyright (c) 2016 Laura Dragonetti, Marcelo Pietrani, Carlos Rivas, Diego Pérez de Arenaza, Eduardo Eyheremendy, Rebeca Kozzor, Ricardo García Mónaco, James Moon

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