title: Familial thoracic aortic aneurysms.
abstract: OBJECTIVE
  A lot of new data have been obtained in familial thoracic aortic aneurysms, including description of new entities and better understanding of pathophysiology. The aim of this review is to put them in perspective.
  
  
  RESULTS
  The new data have been collected, put together, and allowed a new classification scheme to be proposed by the Montalcino Aortic Consortium on the basis of the role of proteins coded by the culprit gene (either protein of the extracellular matrix or protein of the transforming growth factor-beta pathway, or protein of the contractile apparatus of the smooth muscle cell). These groups of diseases include aortic aneurysm, but the extent of extra-aortic vascular risk and the presence of extra-aortic (skeletal, ophthalmologic, neurological, or immunological) features vary according to the gene involved. This understanding also sheds light on the therapeutic benefits that can be foreseen for new molecules, or old molecules used in a newer way.
  
  
  CONCLUSIONS
  Classification of familial forms of thoracic aortic aneurysm should allow a better understanding of these diseases and therefore standardization of initial evaluation of the patients (vascular evaluation limited or not to the aorta, and extravascular evaluation, including or not skeleton, eyes, neurology, digestive tract, and immunological diseases) and individualization of therapy (adapted to both the genotype and the phenotype).
authors.affiliation: aService de Cardiologie bDepartement de Genetique Moléculaire, Centre National de Référence pour le Syndrome de Marfan et apparentes, INSERM LVTS U1148, Faculté Paris Diderot, AP-HP Hopital Bichat, Paris, France.
authors.forename: Guillaume
authors.initials: G
authors.lastname: Jondeau
authors.forename: Catherine
authors.initials: C
authors.lastname: Boileau
mesh_terms: D017545:Aortic Aneurysm, Thoracic / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D009131:Muscle, Smooth, Vascular / Q000378:metabolism*; D009154:Mutation; D016212:Transforming Growth Factor beta / Q000235:genetics* / Q000378:metabolism
chemical_list: D016212:Transforming Growth Factor beta; D004247:DNA