Myocardial Fibrosis in Fabry Disease Demonstrated by Multislice Computed Tomography
Comparison With Biopsy Findings
A 54-year-old man presented with dyspnea on effort. Echocardiogram revealed reduced apical wall motion of the left ventricle (LV) with extreme hypertrophy of the interventricular septum (IVS). Conventional coronary angiogram showed normal coronary arteries. Endomyocardial-biopsy specimens obtained from the IVS revealed extensive vacuolization of cardiac myocytes and mild fibrosis on light microscopy, and typical lysosomal inclusions with a concentric lamellar configuration were seen with electron micros-copy (Figure 1). With these findings and low plasma α-galactosidase activity, he was diagnosed as having Fabry disease. To evaluate the characteristics of the LV, ECG-gated enhanced multislice computed tomography (CT) (Light Speed Ultra, General Electric) was performed with a 1.25-mm slice thickness, helical pitch 3.25. After intravenous injection of 100 mL of iodinated contrast material (350 mgI/mL), CT scanning was performed with retrospective ECG-gated reconstruction at 30 seconds and 8 minutes after injection. In the axial source images, extreme hypertrophy of the IVS and the posterior wall of the LV compared with the apical and lateral walls of the LV could be observed (Figure 2). The apical and lateral portions of the LV revealed lower CT intensity than the IVS in the early phase (arrows), and in the late phase they were abnormally enhanced compared with the IVS, suggesting fibrotic changes in the apical and lateral myocardium. Therefore, we concluded that despite the IVS biopsy results, more fibrotic changes occurred in the apical and lateral portions of the LV rather than in the IVS.
This work was supported by Grant from Takeda Science Foundation.
The editor of Images in Cardiovascular Medicine is Hugh A. McAllister, Jr, MD, Chief, Department of Pathology, St Luke’s Episcopal Hospital and Texas Heart Institute, and Clinical Professor of Pathology, University of Texas Medical School and Baylor College of Medicine.
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