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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.

european heart journal

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