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European Heart Journal Advance Access published online on October 21, 2009
European Heart Journal, doi:10.1093/eurheartj/ehp426
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Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2009. For permissions please email: journals.permissions@oxfordjournals.org

Aortic remodelling in Fabry disease

Frédéric Barbey1,*,{dagger}, Salah D. Qanadli2,{dagger}, Christoph Juli3, Noureddine Brakch4, Tomás Palacek5, Elena Rizzo2, Xavier Jeanrenaud6, Boris Eckhardt7 and Ales Linhart5

1 Department of Transplantation, Faculty of Medicine and Biology, University Hospital, Lausanne, Switzerland
2 Department of Radiology, Faculty of Medicine and Biology, University Hospital, Lausanne, Switzerland
3 Department of Radiology, Faculty of Medicine, University Hospital, Zürich, Switzerland
4 Department of Vascular Medicine, Faculty of Medicine and Biology, University Hospital, Lausanne, Switzerland
5 Second Department of Internal Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic
6 Department of Cardiology, Faculty of Medicine and Biology, University Hospital, Lausanne, Switzerland
7 Department of Radiology, Cantonal Hospital Winterthur, Winterthur, Switzerland

Received 16 February 2009; revised 20 June 2009; accepted 31 July 2009 * Corresponding author: Department of Nephrology, University Hospital, 17 Bugnon Avenue, 1011 Lausanne, Switzerland. Tel: +41 21 314 0488, Fax: +41 21 314 1139, Email: frederic.barbey{at}chuv.ch

Aims: To evaluate thoracic aortic dilation in patients with Fabry disease (FD).

Methods and results: A cohort of 106 patients with FD (52 males; 54 females) from three European centres were studied. The diameter of the thoracic aorta was assessed at three levels (sinus of Valsalva, ascending aorta, and descending aorta) using echocardiograms and cardiovascular magnetic resonance imaging. Aortic dilation at the sinus of Valsalva was found in 32.7% of males and 5.6% of females; aneurysms were present in 9.6% of males and 1.9% of females. No aortic dilation was observed in the descending aorta. There was no correlation between aortic diameter at the sinus of Valsalva and cardiovascular risk factors.

Conclusion: Fabry disease should be considered as a cardiovascular disease that affects the heart and arterial vasculature, including the thoracic aorta. Thus, patients with FD should be closely monitored for the presence, and possible progression and complications of aortic dilation.

Clinical Trial Registration: Protocol 101/01. Ethics committee, Faculty of Medicine, Lausanne.

Key Words: Aorta • Atherosclerosis • Fabry disease • Remodelling

{dagger} F.B. and S.D.Q. contributed equally to this work.


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