Poster No. 131 Family history of aortic dissection is not a risk marker in patients with a FBN1 mutation

Family history of aortic dissection is considered as a risk factor for aortic dissection in patients with thoracic aortic aneurysms, but there is no supporting data published.

Retrospective study of patients coming to the French reference centre carrying a FBN1 pathogenic variant. Patients with a family history of aortic dissection were compared with patients without a family history of aortic dissection.

1700 patients (age 33.2 ± 17 years, 51% women) were included. 145 (8,5%) patients underwent aortic dissection at 37.9 ± 11.4 years and 323 (19%) patients underwent prophylactic aortic surgery at 33.8 ± 13.9 years.

481 patients had a family history of aortic dissection (28%), including 38 who dissected, and 88 who underwent surgery. 1219 had no family history of aortic dissection, including 107 who dissected, and 235 who underwent surgery.

Therefore, the personal risk for aortic dissection was similar in patients with and without a family history of aortic dissection (38/481, i.e. 7.9% vs. 107/1219, i.e. 8.8%), as was the personal risk for prophylactic aortic surgery (88/481, i.e. 18.3% vs. 235/1219, i.e. 19.3%), and the combined risk for either aortic dissection or surgery (118/481, i.e. 24.5% vs. 328/1219, i.e. 26.9%). Similar results were obtained when only familial forms were considered.

A family history of aortic dissection is not a marker of aortic disease severity in patients with FBN1 pathogenic variant, and should not lead to earlier elective surgery.