A Study to evaluate the feasibility of Screening Relatives of Patients Affected by Non-Syndromic Thoracic Aortic Diseases: the ReST Study

Objective 

Diseases of the thoracic aorta (TADs) are increasing in prevalence. Non-syndromic thoracic aortic diseases (NS-TADs) lack external physical features and can present as an acute aortic syndrome. Tailored genetic and imaging screening of first- (FDRs) and second-degree relatives (SDRs) of patients affected by NS-TADs may enable early diagnosis and allow appropriate surveillance or prophylaxis.

Methods 

We performed a Delphi exercise to inform a research proposal that could evaluate a screening programme for TADs. Next, we conducted a feasibility study on 16 NS-TADs patients, along with their FDR and SDR. Each participant underwent imaging and genetic evaluation, together with a physical examination and a psychological assessment.

Results 

In the Delphi exercise, a panel of 34 experts and a pool of 87 patients discussed themes such as preferred imaging technique, age criteria for screening, and optimal trial design. Suggestions included routine storage of DNA and screening test consent at first appointment. For the feasibility study, 70 participants, with median age of 48 years (range 18-85), were recruited. Imaging diagnosis was obtained in 24.1% of relatives, and a genetic variant was identified in 3 families. Overall, imaging or genetic surveillance, or new secondary prevention, was indicated in 68% of the participants in the familial group and 54% in the sporadic group.

Conclusion 

Our results showed an important diagnosis rate with imaging for relatives of NS-TAD patients, and a potential role for genetic testing. With the results of our Delphi exercise, and the evidence gap identified by the review, our data supports the development of a research programme on cascade screening in people at risk of TAD.