A unique case of extensive myocardial late iodine enhancement on CT in Anderson-Fabry disease.

Abstract

A 52-year-old patient with Anderson–Fabry disease (AFD) with known severe left ventricular (LV) hypertrophy and implanted cardioverter defibrillator was evaluated for progression of LV dysfunction. Most AFD patients have preserved LV ejection fraction (EF), with fibrosis limited to the posterolateral wall. In more advanced disease, EF can decline in part due to extensive replacement fibrosis. Contrast-enhanced cardiac magnetic resonance (CMR) is the gold standard for myocardial tissue characterization. However, in a substantial proportion of patients, CMR is not feasible due to contraindications or claustrophobia. In our case, patient’s EF declined from 60% to 45% (see Supplementary data online, Video). Longitudinal deformation of the LV was decreased with impaired global longitudinal strain −11.5% (Panel A). A CT coronary angiography was performed (Panel B, left anterior descending, right coronary artery, * - metal artefact), showing no significant coronary artery disease and confirming LV hypertrophy (Panel C). Due to CMR contraindication, CT late iodine enhancement phase was also performed in addition to the CT coronarography. Late scans show extensive midmyocardial late iodine enhancement, with dominance in basal and mid parts of both the interventricular septum and the free wall (Panel D). To our best knowledge, this is the first case reporting CT late iodine enhancement in AFD cardiomyopathy. It illustrates that the addition of late iodine enhancement phase in patients undergoing CT coronary angiography can in some cases detect scarring of the LV wall and should be considered when CMR is not feasible or limited by artefacts.