Can I read Family history of aortic dissection in patients with a FBN1 pathogenic variant on EtoBox?

Family history of aortic dissection in patients with a FBN1 pathogenic variant by M. Tchitchinadze; O. Milleron; P. Arnaud; L. Eliahou; S. Jadoui; N. Hanna; J. Ropers; C. Boileau; L. Gouya; G. Jondeau is a Medicine article available to read on EtoBox.

What is Family history of aortic dissection in patients with a FBN1 pathogenic variant about?

Introduction Guidelines recommend to lower the surgical prophylactic threshold diameter in patients with Marfan Syndrome when a family history of aortic dissection (AD) is present. Objective To evaluate whether an AD in the family is a risk marker for AD in patients with a FBN1 pathogenic variant. Method 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. Results 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 fam

Who reads Family history of aortic dissection in patients with a FBN1 pathogenic variant?

Author

M. Tchitchinadze; O. Milleron; P. Arnaud; L. Eliahou; S. Jadoui; N. Hanna; J. Ropers; C. Boileau; L. Gouya; G. Jondeau

Publisher

Elsevier BV

Published

2023

Language

EN

Field

Medicine (Health Sciences)