Copyright © 2003 by the European Society of Cardiology.
Clinical research
Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease1
Evidence for a disease specific abnormality of the myocardial interstitium
a Centre for Advanced Magnetic Resonance in Cardiology (CAMRIC), Royal Brompton Hospital, London, UK
b The Heart Hospital, London, UK
c The Royal Free Hampstead NHS Trust, Royal Free Hospital, London, UK
d National Hospital for Neurology and Neurosurgery, London, UK
* Corresponding author.Dr P. M. Elliott, The Heart Hospital, 16–18 Westmoreland Street, London W1G 8PH, UK. Tel.: +44-207-5738888 ext 4801; Fax: +44-207-5738838
E-mail address: pelliott{at}sghms.ac.uk
Received 5 June 2003; revised 13 August 2003; accepted 19 September 2003
Abstract
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 males (mean 43±14 years) and eight female heterozygotes (mean 48±12 years) with AFD underwent cine and late gadolinium cardiovascular magnetic resonance. Nine male (50%) had myocardial hyperenhancement ranging from 3.4% to 20.6% (mean 7.7±5.7%) of total myocardium; in males, 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 wall where, unlike myocardial infarction, it was not sub-endocardial. In two male 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.
Key Words: Cardiomyopathy • Hypertrophy • Magnetic resonance imaging • Anderson-Fabry disease
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