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European Journal of Echocardiography Advance Access published online on April 4, 2008
European Journal of Echocardiography, doi:10.1093/ejechocard/jen132
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Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2008. For permissions please email: journals.permissions@oxfordjournals.org

Fabry’s disease presenting as ventricular tachycardia and Left Ventricular ‘Hypertrophy’

Subodh B. Joshi1,*, Walid Ahmar2, Geoff Lee3 and Anuradha Aggarwal3

1 Washington Hospital Center, 110 Irving St. NW, Washington, DC 20010, USA
2 Monash Medical Centre, Clayton, Australia
3 Royal Melbourne Hospital, Parkville, Australia

Received 26 November 2007; .

* Corresponding author. Tel: +1 202 441 8717; fax: +1 202 877 0011. E-mail address: subodh.joshi{at}gmail.com


  Abstract

Fabry’s disease (FD) is a genetic disorder leading to deficiency of {alpha}-galactosidase A. Enzymatic replacement therapy has recently become available. Patients with classical FD develop multi-system involvement; however, there is an increasingly recognized cardiac variant that presents as unexplained left ventricular hypertrophy. We describe a patient with Fabry's disease who presented with ventricular tachycardia.

Keywords: Fabry's; Ventricular tachycardia; Sudden cardiac death; Left ventricular hypertrophy


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