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Call for routine screening of relatives of aortic disease patients

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The introduction of routine screening and genetic testing for the relatives of patients diagnosed with aortic diseases could “potentially save lives”, claim UK researchers.

They said their research showed over 30% of relatives of patients with thoracic aortic diseases (TAD) could have underlying genetic predisposition to developing life-threatening condition.

“All of these tests could easily be adopted as simple and quick routine screening tools”

Gavin Murphy

The University of Leicester researchers noted that TADs, including aneurysms and dissections, were often silent until they became emergencies, at which point they had a mortality risk of nearly 80%.

They said their study, which was part-funded by the British Heart Foundation, highlighted the importance of routine imaging and genetic testing of relatives of patients affected by TAD.

It also suggested that current guidelines were likely to result in the under-treatment of patients who were potentially at-risk, particularly as screening was not routine in the UK, they said.

Their review, published in the Journal of the American Heart Association, included 53 existing studies and a total of 2,696 screened relatives of patients with TADs.

“Screening relatives will result in a significant number of patients being diagnosed, which could potentially save lives”

Giovanni Mariscalco

Screening was genetic in 49% of studies, followed by imaging techniques in 11% and a combination of the two in 40%. Newly affected individuals were identified in 33%, 24%, and 15% of first‐, second‐ and third‐degree relatives, respectively.

Senior study author Gavin Murphy, British Heart Foundation professor of cardiac surgery at Leicester, highlighted that the study involved a combination of genetic and imaging tests, including echocardiogram, CT-scan and MRI of the aorta.

“All of these tests could easily be adopted as simple and quick routine screening tools to identify relatives of patients at risk for aortic diseases,” said Professor Murphy.

“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,” he added.

Lead study author Dr Giovanni Mariscalco 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,” he said.

“We expect that changes to national screening programmes as a result of this research will save lives”

Gareth Owens

Gareth Owens, chair of Aortic Dissection Awareness, said: “Traditionally, aortic dissection has been regarded 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,” said Mr Owens.

“This research shows that there is a significant cohort of up to 30% of patients, including many younger patients, in whom a genetic predisposition to aortic dissection can and should be detected through appropriate screening,” he said.

He added: “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.”

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