title: New insights into the molecular diagnosis and management of heritable thoracic aortic aneurysms and dissections.
abstract: Since the identification of the fibrillin‑1 gene as the causal gene for Marfan syndrome, our knowledge of molecular genetics and the applicability of genetic testing for heritable thoracic aneurysms and dissections (H-TAD) in clinical practice have increased substantially. Several new syndromes related to H-TAD have been described and the list of mutated genes in syndromal and nonsyndromal H-TAD is rapidly expanding. This knowledge has led to a significant improvement of our insight into the underlying pathophysiology of H-TAD resulting in new opportunities for targeted treatment, as well as in improved risk stratification. Clinicians involved in the care for H-TAD patients require a basic knowledge of the disease entities and need to be correctly informed on the applicability of genetic testing in their patients and families. Gene‑tailored treatment and management should now be considered as part of good clinical practice. We provide a systematic overview of genetic H-TAD entities and practical recommendations for genetic testing and patient management.
authors.forename: Laurence
authors.initials: L
authors.lastname: Campens
authors.forename: Marjolijn
authors.initials: M
authors.lastname: Renard
authors.forename: Bert
authors.initials: B
authors.lastname: Callewaert
authors.forename: Paul
authors.initials: P
authors.lastname: Coucke
authors.forename: Julie
authors.initials: J
authors.lastname: De Backer
authors.forename: Anne
authors.initials: A
authors.lastname: De Paepe
mesh_terms: D000784:Aortic Dissection / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D017545:Aortic Aneurysm, Thoracic / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D000071838:Fibrillin-1; D000071837:Fibrillins; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics; D008840:Microfilament Proteins / Q000235:genetics*; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D009154:Mutation; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D005819:Genetic Markers; D008840:Microfilament Proteins; D018125:Receptors, Transforming Growth Factor beta; C000605722:FBN1 protein, human; D054392:Adipokines