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

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-beta receptor 1 and 2. Further studies are required to establish the proper surgical management. (C) 2011 Published by European Association for Cardio-Thoracic Surgery. All rights reserved.