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

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

doi:10.1510/icvts.2010.258681

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

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

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	863-865
Number of pages	3
Journal	Interactive Cardiovascular and Thoracic Surgery
Volume	12
Issue number	5
DOIs	https://doi.org/10.1510/icvts.2010.258681
Publication status	Published - May 2011
Externally published	Yes

Keywords

Aortic dissection
Endovascular
Familial syndrome

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10.1510/icvts.2010.258681

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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.",

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

Abstract

Keywords

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