Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

M. Bertoli‐Avella, Aida; Gillis, Elisabeth; Morisaki, Hiroko; M.A. Verhagen, Judith; M. de Graaf, Bianca; van de Beek, Gerarda; Gallo, Elena; P. T. Kruithof, Boudewijn; Venselaar, Hanka; Myers, Loretha; Laga, Steven; Doyle, Alexander; Oswald, Gretchen; W. A. van Cappellen, Gert; Yamanaka, Itaru; van der Helm, R.M.; Beverloo, Berna; de Klein, Annelies; M. Pardo, Luba; Lammens, Martin; Evers, Christina; Devriendt, Koenraad; Dumoulein, Michiel; Timmermans, Janneke; T. Brüggenwirth, Hennie; W. Verheijen, Frans; Rodrigus, Inez; Baynam, Gareth; Kempers, Marlies; Saenen, Johan; M. Van Craenenbroeck, Emeline; Minatoya, Kenji; Matsukawa, Ritsu; Tsukube, Takuro; Kubo, Noriaki; M.W. Hofstra, Robert; Goumans, Marie‐José; A. Bekkers, Jos; W. Roos‐Hesselink, Jolien; M.B.H. van de Laar, Ingrid; C. Dietz, Harry; Van Laer, Lut; Morisaki, Takayuki; W. Wessels, Marja; Loeys, Bart

doi:10.1016/j.jacc.2015.01.040

Public

Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

Published in Journal of the American College of Cardiology • Mar 30, 2015

Authors:

Aida M. Bertoli‐Avella

Elisabeth Gillis

Hiroko Morisaki

Abstract

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 a...

Subject

Medicine

Marfan syndrome

Aortic aneurysm

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