© 2004 by BMJ Publishing Group & British Cardiac Society
Images in cardiology
Severe left ventricular hypertrophy in Anderson-Fabry disease
gurbir.bhatia@swbh.nhs.uk
Keywords: Images in cardiology
| The first 150 words of the full text of this article appear below. |
A 45 year old asymptomatic man was referred with hypertension and pronounced electrographic left ventricular hypertrophy (LVH), strikingly confirmed by TrueFISP cardiac magnetic resonance (CMR) imaging (panels A–C). Gross, concentric LVH (septal thickness 3 cm) without outflow tract obstruction or valvopathy was evident. The serum creatinine was elevated, and urinalysis revealed proteinuria. The differential diagnosis included hypertension with end organ manifestations, and hypertrophic cardiomyopathy (HCM). However, a renal biopsy revealed Anderson-Fabry disease (AFD).
AFD is a rare X linked recessive disorder, resulting in a deficiency of the enzyme, 
-galactosidase A, with subsequent glycosphingolipid accumulation. In classical AFD serum galactosidase concentrations are undetectable. Enzyme activity may also be reduced in female carriers, in whom cardiac complications also occur. A variant form, predominantly affecting the heart, is also recognised. The enzyme concentration was severely reduced in this patient.
In subjects with LVH, appearances on echo or CMR imaging may be reminiscent of
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