Cardiac Involvement in Fabry Disease Demonstrated by Magnetic Resonance Imaging
Rolf Gebker, Sebastian Kelle, Justus Müller, Eckart Fleck, Eike Nagel, Kristof Graf
German Heart Institute, Berlin, Germany
Cardiac magnetic resonance imaging was performed in a 58 year old woman presenting with dyspnea on exertion. Global hypertrophy of the myocardium was found on cine MR imaging, except for an area with focal wall thinning of the basal inferolateral segment with a concomitant hypokinesia. Additionally, mitral regurgitation and decreased motility of the thickened non-coronary aortic leaflet were detected (figure A). MR perfusion imaging during first pass of a bolus of Gad-BOPTA (0.05 mmol/kg) demonstrated a fixed intramural perfusion defect of the basal inferolateral segment (figure B) with the hypoperfused myocardial region showing delayed hyperenhancement (figure C). On coronary angiography normal epicardial coronary arteries were seen. Using the diagnostic information of MR tissue characterisation endomyocardial biopsy was directed to the area of hyperenhancement. Electron microscopic evaluation revealed morphologic alterations of the myocardial cells and the interstitium characteristic for Fabry disease (figure D). Functional imaging and morphological characterization of the myocardial tissue with cardiac MR proved to be a powerful diagnostic tool to describe the magnitude of cardiac involvement in Fabry disease.
Figure legend
A: Mid systolic still image of a cine SSFP-scan (three chamber view ) showing global left ventricular hypertrophy except for focal wall thinning and hypokinesia of the basal inferolateral wall (solid white arrow). Mitral regurgitation can be seen (dotted white arrow). Note the thickened non-coronary leaflet of the aortic valve with decreased motility (black arrow). LV: left ventricle; LA: left atrium, AO: ascending Aorta.
B: Short axis view of first pass MR perfusion scan: an intramural, fixed perfusion defect (arrow) was found in the region of the hypokinetic myocardial segment.
C: Short axis view of MR delayed hyperenhancement demonstrating a focal area of intense, intramural contrast enhancement of the inferolateral segment
D: Findings in endomyocardial biopsy specimen. Electron microscopic image showing the completely destroyed intracellular structure of the myocardium with lysosomal concentric lamellar structures typical in Fabry disease.
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