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Call to screen relatives of thoracic aortic disease patients

Monday August 6th, 2018

Routine screening and genetic testing of families of aortic disease patients could save lives, according to new research.

Researchers led by the University of Leicester have found that more than 30% of relatives of people suffering from thoracic aortic diseases (TAD) have themselves an underlying genetic predisposition to developing an aortic disease.

The study involved a combination of genetic and imaging tests, including echocardiogram, CT-scan and MRI of the aorta.

Writing in the Journal of the American Heart Association, the team says its study, which is part-funded by the British Heart Foundation, highlights the importance of routine imaging and genetic testing of relatives of patients affected by TAD to identify the diseases early.

It also suggests that current guidelines for the condition are likely to result in the under-treatment of patients who are potentially at-risk, particularly as screening is not routinely performed in the UK, they say.

Lead academic Dr Giovanni Mariscalco, associate professor from the University of Leicester and honorary consultant cardiothoracic surgeon at Leicester’s Hospitals, said: “Our research identifies important knowledge gaps with respect to the predictive accuracy of commonly used screening tests across patients with thoracic aortic diseases.

“The evidence suggests that screening of first - and second-degree relatives of patients affected by familial non-syndromic thoracic aortic diseases, and first-degree relatives of those affected by sporadic TAD will result in a significant number of patients being diagnosed who would otherwise remain unaware they suffer from the disease, which could potentially save lives.”

Gareth Owens, chair of Aortic Dissection Awareness (UK & Ireland) said: “Traditionally, aortic dissection has been regarded by the medical profession as a ‘silent killer’, striking mainly the over-65s, with little opportunity for prediction or prevention. Sadly, we know of many patients in the UK and Ireland who died suddenly due to a lack of appropriate screening.

“Dr Mariscalco and his team are to be congratulated on highlighting this issue. We expect that changes to national screening programmes as a result of this research will save lives, by improving the prevention, detection and treatment of aortic dissection.”

Professor Gavin Murphy, British Heart Foundation Professor of Cardiac Surgery at the University of Leicester, said: “Now that we have a better idea of the percentage of relatives of people with aortic diseases who are also likely to suffer with the condition we can start to ascertain the financial viability of introducing routine screening for this at risk group.”

Mariscalco G, Debiec R, Elefteriades J et al. Systematic Review of Studies that Have Evaluated Screening Tests in Relatives of Patients Affected by Non-Syndromic Thoracic Aortic Disease. Journal of the American Heart Association 31 July 2018

https://www.ahajournals.org/doi/10.1161/JAHA.118.009302

Tags: Genetics | Heart Health | UK News

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