Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease - Evidence for a disease specific abnormality of the myocardial interstitium

Aims Anderson-Fabry Disease (AFD), an X-linked disorder of sphingolipid metabolism, is a cause of idiopathic left ventricular hypertrophy but the mechanism of hypertrophy is poorly understood. Gadolinium enhanced cardiovascular magnetic resonance can detect focal myocardial fibrosis. We hypothesised that hyperenhancement would be present in AFD. Methods and results Eighteen mates (mean 43 14 years) and eight female hetero-zygotes (mean 48 12 years) with AFD underwent cine and late gadolinium cardiovascular magnetic resonance. Nine mate (50%) had myocardial hyperenhancement ranging from 3.4% to 20.6% (mean 7.7+/-5.7%) of total myocardium; in mates, percentage hyperenhancement related to LV mass index (r=0.78, P=0.0002) but not to ejection fraction or left ventricular volumes. Lesser hyperenhancement was also found in four (50%) heterozygous females (mean 4.6%). In 12 (92%) patients with abnormal gadolinium uptake, hyperenhancement occurred in the basal infero-lateral watt where, unlike myocardial infarction, it was not sub-endocardial. In two mate patients with severe LVH (left ventricular hypertrophy) and systolic impairment there was additional hyperenhancement in other myocardial segments. Conclusion These observations suggests that myocardial fibrosis occurs in AFD and may contribute to the hypertrophy and the natural history of the disease. (C) 2003 The European Society of Cardiology. Published by Elsevier Ltd. All rights reserved.