Familial aortic aneurysm and dissection due to transforming growth factor-b receptor 2 mutation

James B.J. Edelman, Fabio Ramponi*, Paul G. Bannon, Richmond Jeremy

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)

Abstract

This report describes the clinical course and management of a patient with Loeys-Dietz syndrome (LDS) type 2. In 2003, a 31-year-old male was diagnosed with acute aortic dissection type B; in the following six years he underwent multiple surgical and endovascular aortic procedures at different thoracic and abdominal levels secondary to progressive enlargement of both the non-dissected thoracic aorta and the false lumen distal to the left subclavian artery. LDS is characterized by arterial tortuosity and aneurysms as a result of heterozygous mutations in genes encoding transforming growth factor-β receptor 1 and 2. Further studies are required to establish the proper surgical management.

Original languageEnglish
Pages (from-to)863-865
Number of pages3
JournalInteractive Cardiovascular and Thoracic Surgery
Volume12
Issue number5
DOIs
Publication statusPublished - May 2011
Externally publishedYes

Keywords

  • Aortic dissection
  • Endovascular
  • Familial syndrome

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