Aida M Bertoli-Avella, Elisabeth Gillis, Hiroko Morisaki, Judith M A Verhagen, Bianca M de Graaf, Gerarda van de Beek, Elena Gallo, Boudewijn P T Kruithof, Hanka Venselaar, Loretha A Myers, Steven Laga, Alexander J Doyle, Gretchen Oswald, Gert W A van Cappellen, Itaru Yamanaka, Robert M van der Helm, Berna Beverloo, Annelies de Klein, Luba Pardo, Martin Lammens, Christina Evers, Koenraad Devriendt, Michiel Dumoulein, Janneke Timmermans, Hennie T Bruggenwirth, Frans Verheijen, Inez Rodrigus, Gareth Baynam, Marlies Kempers, Johan Saenen, Emeline M Van Craenenbroeck, Kenji Minatoya, Ritsu Matsukawa, Takuro Tsukube, Noriaki Kubo, Robert Hofstra, Marie Jose Goumans, Jos A Bekkers, Jolien W Roos-Hesselink, Ingrid M B H van de Laar, Harry C Dietz, Lut Van Laer, Takayuki Morisaki, Marja W Wessels, Bart L Loeys
BACKGROUND: Aneurysms affecting the aorta are a common condition associated with high mortality as a result of aortic dissection or rupture. Investigations of the pathogenic mechanisms involved in syndromic types of thoracic aortic aneurysms, such as Marfan and Loeys-Dietz syndromes, have revealed an important contribution of disturbed transforming growth factor (TGF)-β signaling. OBJECTIVES: This study sought to discover a novel gene causing syndromic aortic aneurysms in order to unravel the underlying pathogenesis...
April 7, 2015: Journal of the American College of Cardiology