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- W4313443784 abstract "Guidelines recommend to lower the surgical prophylactic threshold diameter in patients with Marfan Syndrome when a family history of aortic dissection (AD) is present. To evaluate whether an AD in the family is a risk marker for AD in patients with a FBN1 pathogenic variant. Retrospective study of patients coming to the French reference centre carrying a FBN1 pathogenic variant. Patients with an AD within the family were compared with patients without. The personal risk for AD was similar in patients with and without an AD within the family. This was true when all 1,700 patients with a FBN1 pathogenic variant were included: 38 AD in 481 patients with AD in the family (7.9%) versus 107 AD in 1,219 patients without AD in the family (8.8%). This was also true when only the 1,250 patients with familial forms were included: 38 AD in 481 patients with AD in the family (7.9%) versus 62 AD in 767 patients without AD in the family (8.0%). The personal risk for aortic prophylactic surgery was also similar in patients with and without an AD within the family: 18% vs. 19% when the 1,700 patients are considered; 18% vs. 16.8% when the only patients with familial forms are considered. Ages at the time of AD or surgery were also similar. Seventy-five percent of families with AD presented only one occurrence of dissection. Presence of AD within families was related to the number of affected members in the family. In patients with FBN1 pathogenic variants, the personal risk for aortic dissection was similar in patients with and without a family history of aortic dissection. Family history of aortic dissection is therefore not a risk marker for aortic dissection in this population." @default.
- W4313443784 created "2023-01-06" @default.
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- W4313443784 date "2023-01-01" @default.
- W4313443784 modified "2023-10-16" @default.
- W4313443784 title "Family history of aortic dissection in patients with a FBN1 pathogenic variant" @default.
- W4313443784 doi "https://doi.org/10.1016/j.acvdsp.2022.10.266" @default.
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