Acute dilatation of the ascending aorta and aortic valve regurgitation in Loeys-Dietz syndrome.

Abstract

Loeys-Dietz syndrome (LDS) is a recently recognized connective tissue disorder caused by mutations of the transforming growth factor (TGF)-β receptors. It is an autosomal dominant syndrome characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. We treated an 18-year-old woman with a 100-mm-diameter aortic root aneurysm and severe aortic valve regurgitation. She underwent urgent aortic root replacement and bioprosthetic valve implantation. LDS was diagnosed by postoperative genetic screening results. Histopathologic examination of the aortic wall showed diffuse degeneration and elastin fragmentation in the media.

• Authors: Tomohiro Nakajima, Kazutoshi Tachibana, Yasuko Miyaki, Nobuyuki Takagi, Takayuki Morisaki, Tetsuya Higami
• Journal: The Annals of thoracic surgery (Ann Thorac Surg) Vol. 97 Issue 6 Pg. 2188-90 (Jun 2014) ISSN: 1552-6259 [Electronic] Netherlands
• PMID: 24882305 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2014 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

Topics

• Acute Disease
• Adolescent
• Aorta (pathology)
• Aortic Valve Insufficiency (surgery)
• Dilatation, Pathologic
• Female
• Humans
• Loeys-Dietz Syndrome (complications)