Aortic remodelling in Fabry disease

Eur Heart J. 2010 Feb;31(3):347-53. doi: 10.1093/eurheartj/ehp426. Epub 2009 Oct 21.


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.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Aortic Aneurysm, Thoracic / pathology*
  • Echocardiography
  • Fabry Disease / pathology*
  • Fabry Disease / physiopathology
  • Female
  • Humans
  • Magnetic Resonance Angiography
  • Male
  • Middle Aged
  • Sinus of Valsalva / pathology
  • Young Adult