Wednesday, 15 February 2012

A Cardiothoracic Holy Grail and the future of Medicine.

This article on genetic polymorphisms in patients with thoracic aortic aneurysms interests me for a couple of   
reasons.
The commonest indication for aortic valve replacement in patients under 70 is a diseased bicuspid aortic valve. The presence of an aortic valve with 2 rather than 3 cusps (bicuspid) is the commonest congenital cardiac abnormality in humans. It is frequently but not always associated with an aortopathy or a dilated diseased thoracic aorta. Aneurysmal formation or dissection in the affected aorta may not occur until after the aortic valve is replaced. Dealing with a diseased aorta in a patient who already has had cardiac surgery is technically challenging and hazardous. Identifying those patients undergoing aortic valve replacement for bicuspid valve whose aortas look normal but dilate or dissect at a later stage is a cardio thoracic holy grail. These aortas could be replaced prophylactically when the risk is relatively low. This paper suggests that demonstration of polymorphisms in the ACE gene may represent that Holy Grail.
The second reason for making this article one of note is that it is an example of the personalised medicine of the future written about ably by Eric Topol in his latest book The Creative Destruction of Medicine. This is the future all health services need to prepare for.