title: [Genetics and prevention of genetic aortic syndromes (GAS) and of the Marfan syndrome].
abstract: BACKGROUND
  Genetic aortic syndromes are autosomal-dominantly heritable aneurysms of the thoracic aorta, which carry a high risk of aortic rupture or acute thoracic aortic dissection at young age.
  
  
  OBJECTIVE
  We introduce the reader to the principles of genetic diagnostics and the medical and surgical prevention of thoracic aortic dissection in patients with genetic aortic syndromes.
  
  
  METHODS
  A cardiologist, a health economist, a patient representative, a heart surgeon, and a molecular geneticist teamed up to elucidate their perspective on major aspects of genetics and prevention of genetic aortic syndromes.
  
  
  RESULTS
  Genetic aortic syndromes reflect a broad spectrum of diverse disease entities comprising the Marfan syndrome, the Loeys-Dietz syndrome or the vascular Ehlers-Danlos syndrome. The diagnosis of each respective disease entity requires combined assessment of phenotype and genotype information. A medical prevention of aortic complications such as dissection is mandatory although a curative therapy currently appears unlikely in humans. The single most important measure against acute aortic dissection is the preventive replacement of the aortic root, where valve preserving techniques appear preferable. Comprehensive prophylaxis including molecular diagnostics seem reasonable also from an economic point of view.
  
  
  CONCLUSIONS
  Optimal prevention requires individualization of concepts, which entail a detailed diagnostic characterization of each specific genetic aortic syndrome including characterization of the genotype.
authors.affiliation: Klinik und Poliklinik für Allgemeine und Interventionelle Kardiologie, Universitätsklinik Hamburg-Eppendorf, Universitäres Herzzentrum Hamburg, Martinistr. 52, 20246, Hamburg, Deutschland, kodolitsch@uke.de.
authors.forename: Y
authors.initials: Y
authors.lastname: von Kodolitsch
authors.forename: C R
authors.initials: CR
authors.lastname: Blankart
authors.forename: M
authors.initials: M
authors.lastname: Vogler
authors.forename: K
authors.initials: K
authors.lastname: Kallenbach
authors.forename: P N
authors.initials: PN
authors.lastname: Robinson
mesh_terms: D017545:Aortic Aneurysm, Thoracic / Q000235:genetics* / Q000517:prevention & control*; D020022:Genetic Predisposition to Disease / Q000235:genetics / Q000517:prevention & control; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics* / Q000517:prevention & control*; D057285:Precision Medicine / Q000379:methods