title: [Familial thoracic aortic aneurysms and dissections can be divided into three different main categories].
abstract: Thoracic aortic aneurysms and dissections (TAAD) can be divided into three different main categories. 1. Inherited syndromes predisposing to TAAD such as Marfan syndrome, Ehlers-Danlos syndrome type IV and Loeys-Dietz syndrome (less than 5% of all TAAD). 2. Familial TAAD (FTAAD) with more than one affected family member (20 % of all TAAD). Inheritance shows an autosomal dominant pattern and there are no features of known syndromes. 3. Sporadic forms of TAAD with no family history or features of syndromic forms. FTAAD present earlier in life and dissections occur in smaller diameter than in sporadic cases. The underlying genetic cause can be found in about 20 % of the inherited cases. The pathogenesis seems to be an involvement of the transforming growth factor β (TGFβ) signaling pathway or a dysfunction of the smooth muscle cell contraction. The role of β-blockers for aneurysm prevention is uncertain and there are on-going studies comparing angiotensin receptor blockers and β-blockers.
authors.affiliation: Institutionen för kirurgisk och perioperativ vetenskap - Umeå Universitet Umeå, Sweden - Department of Surgery and Perioperative Sciences Umeå, Sweden.
authors.forename: Matias
authors.initials: M
authors.lastname: Hannuksela
authors.affiliation: Institutionen för medicinsk biovetenskap - Umeå Universitet Umeå, Sweden Institutionen för medicinsk biovetenskap - Klinisk Genetik Umeå, Sweden.
authors.forename: Eva-Lena
authors.initials: EL
authors.lastname: Stattin
authors.affiliation: Klinisk genetik vid laboratoriemedicin - Norrlands Universitetssjukhus Umeå, Sweden Institutionen för medicinsk biovetenskap - Klinisk Genetik Umeå, Sweden.
authors.forename: Peter
authors.initials: P
authors.lastname: Nyberg
authors.affiliation: Institutionen för folkhälsa och klinisk medicin - Umeå Universitet Umeå, Sweden Folkhälsa och Klinisk Medicin - Medicin Umeå, Sweden.
authors.forename: Bo
authors.initials: B
authors.lastname: Carlberg
mesh_terms: D000784:Aortic Dissection / Q000175:diagnosis / Q000209:etiology / Q000235:genetics / Q000517:prevention & control; D017545:Aortic Aneurysm, Thoracic / Q000175:diagnosis / Q000209:etiology / Q000235:genetics / Q000517:prevention & control; D006801:Humans; D009154:Mutation; D010375:Pedigree; D013577:Syndrome