title: Marfan Syndrome and Related Heritable Thoracic Aortic Aneurysms and Dissections.
abstract: In this overview we aim to address a number of recent insights and developments regarding clinical aspects, etiology, and treatment of Heritable Thoracic Aortic Disease (H-TAD). We will focus on monogenetic disorders related to aortic aneurysms. H-TADs are rare but they provide a unique basis for the study of underlying pathogenetic pathways in the complex disease process of aneurysm formation. The understanding of pathomechanisms may help us to identify medical treatment targets to improve prognosis. Among the monogenetic aneurysm disorders, Marfan syndrome is considered as a paradigm entity and many insights are derived from the study of clinical, genetic and animal models for Marfan syndrome. We will therefore first provide a detailed overview of the various aspects of Marfan syndrome after which we will give an overview of related H-TAD entities.
authors: Department of Cardiology and Medical Genetics, University Hospital Ghent, Belgium, De Pintelaan 185, 9000 Ghent, Belgium. Julie.debacker@ugent.be.
authors: Julie
authors: J
authors: De Backer
authors: Marjolijn
authors: M
authors: Renard
authors: Laurence
authors: L
authors: Campens
authors: Laura Muino
authors: LM
authors: Mosquera
authors: Anne
authors: A
authors: De Paepe
authors: Paul
authors: P
authors: Coucke
authors: Bert
authors: B
authors: Callewaert
authors: Yskert von
authors: Yv
authors: Kodolitsch
mesh_terms: D000784:Aortic Dissection / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D000818:Animals; D017545:Aortic Aneurysm, Thoracic / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D004195:Disease Models, Animal; D006801:Humans; D008382:Marfan Syndrome / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D011379:Prognosis