Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm (TAA)

Enrollement of individuals and families followed in the reference centers and the competence centers,

• search for mutations in one of known genes such as FBN1, TGFBR1, TGFBR2, ACTA2, or MYH11.
• search for new genes in families and individuals with TAA who without mutation in one of the known genes.

Inclusion Criteria:

For all:

• Aged > 18 years.
• Written informed consent obtained.
• People with health insurance.

For individual:

• people ≥ 45 years, thoracic aortic aneurysm without syndrome,
• or people > 45 years with familial TAA.

For family:

• At least 2 members of family in 2 generations have TAA without syndrome and at least 2 patients of TAA will undergo blood collection.
• All people in family will undergo blood collection, each member should declare at first his (her) status (with or without TAA, unknown), the relationship (direct relative family or family in-law), no limit of age. For the children, only those with TAA will perform blood collection for the study.

Exclusion Criteria:

• Thoracic aortic aneurysm with different syndromes (Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome, Turner syndrome, Noonan syndrome).
• Arterial hypertension.