Article Text

PDF

Severe left ventricular hypertrophy in Anderson-Fabry disease
  1. G S Bhatia,
  2. J F Leahy,
  3. D L Connolly,
  4. R C Davis
  1. gurbir.bhatiaswbh.nhs.uk

Statistics from Altmetric.com

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, α-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 HCM, although outflow tract obstruction is unusual. AFD was the underlying cause in 4% of middle aged subjects with apparent HCM in one study. Gadolinium enhanced CMR imaging may be of potential value in distinguishing AFD cardiomyopathy from HCM. Enzyme replacement therapy has reduced left ventricular mass in AFD. As cardiomyopathy in AFD may be reversible, this condition should be excluded in cases of unexplained LVH.


Embedded Image

Embedded Image

Embedded Image

View Abstract

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.