SCOTS researchers are aiming to prevent more deaths from a “silent” disease that can lead to a sudden rupturing of the body’s most important artery.
Doctors say there are gaps in our knowledge of aortic dissection, which has a 90 per cent risk of death. It is associated with a common, congenital hereditary heart defect called a Bicuspid aortic valve, where the valve has two leaflets instead of three and which occurs in around one 100 births.
In some people the defective valve does not cause any problems, but in others can lead to a dangerous enlargement of the aorta.
Experts say some, unexplained sudden heart deaths may be attributable to dissection and say the current method of assessing who is is most at risk is a ‘blunt tool’. MRI imagining is used to measure the diameter of the aorta every two or three years.
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Dr Alex Fletcher is leading a study on behalf of Edinburgh University, which will monitor around 60 patients who are at risk of a dissection and aims to develop a more effective screening tool.
He said: “We are studying people with aortopathy, which is a dilatation of the aorta, the main artery that is coming out of the heart. It is the most important artery in the body.
“It is a silent disease process, so you wouldn’t know it was going to happen unless we did imaging.
“The reason it is important is because the complications of the dilatation of the aorta are pretty catastrophic. Thankfully it is quite rare but the chances of dying are about 90%.
“The dilated aorta can run in families and that’s part of our study so we are looking at the genes that cause that.
“What we wonder is, if there has been a cardiac death in the family – a lot of these people don’t get autopsies – it may well actually be a complication of the aorta.
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“Not everyone who has Bicuspid valve will develop dilatation and not everyone will develop valve problems, such as leaking, which is another thing we watch out for in this group.”
The British Heart Foundation-funded study is trying to identify those at the highest risk of having the complication, who would benefit from corrective, open heart surgery.
“At the moment the tools we have to decide who is at the highest risk are quite a blunt tool, using MRI imaging, “ said Dr Fletcher.
The study will monitor people born with a Bicuspid valve who have a dilated aorta, along with others with genetic conditions including Marfan syndrome and Turner’s Syndrome that can weaken the artery.
“With these conditions, the structures that form the wall of the aorta is abnormal, so they have inherently weak arteries anyway and are more prone to these catastrophic complications. These are very important groups for us, to better identify who is most at risk.
“We are using molecular imaging, we do a dye injection test which binds to calcium in the arteries and the aorta and we are hypothesising that if we see calcium within the aneurysm or dilated aorta, then that’s a bad sign.
“That would potentially highlight those who would better benefit from surgery.”
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Congenital heart disease is one of the most common types of birth defect, affecting up to 8 in every 1,000 babies born in the UK. Patients require life-long monitoring and repeat interventions and some cases are not detected until adulthood, which can lead to poorer outcomes.
Peep Show writer Robert Webb revealed earlier this year that he had undergone emergency life-saving surgery to repair a defective valve after being told by a cardiologist his heart “would fail” within two to four months.
Dr Fletcher, who is a paediatrician, is aiming to specialise in congenital heart disease and is particularly the imaging of babies and children.
He said: “The biggest advances have come in fetal echo, so this is the ability to detect congenital heart disease in the foetus which is amazing for outcomes.”
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