Routine screening of relatives of aortic disease patients could save lives

Routine screening and genetic testing of the relatives of patients suffering from aortic diseases could save lives, new research has shown.

A Leicester research team has published a new study in the Journal of the American Heart Association which shows that over 30% of relatives of patients suffering from thoracic aortic diseases (TAD) have an underlying genetic predisposition to developing an aortic disease themselves.

TAD, including aneurysms and dissections, are often silent entities until they become life-threatening emergencies, at which point they have a high chance of mortality approaching 80%.

The 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 in order to identify the diseases early..

Dr Giovanni Mariscalco, Associate Professor at Leicester and Honorary Consultant Cardiothoracic Surgeon at Leicester’s Hospitals, who led the study, 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.”