Published in:
Open Access
01-12-2009 | Case report
Ascending aortic aneurysm in a patient with bicuspid aortic valve, positive history of systemic autoimmune diseases and common genetic factors: a case report
Authors:
Ilenia Foffa, Pier Luigi Festa, Lamia Ait-Ali, Annamaria Mazzone, Stefano Bevilacqua, Maria Grazia Andreassi
Published in:
Cardiovascular Ultrasound
|
Issue 1/2009
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Abstract
The bicuspid aortic valve (BAV) and specific systemic autoimmune diseases are associated with cardiovascular manifestation, including aortic aneurysm. We reported a case of 64 year-old patient with BAV and a history of ankylosing spondylitis (AS) and systemic lupus erythematosus (SLE), and who developed ascending thoracic aortic aneurysm. The patient presented also the homozygosity for genetic variants of MMP9, ACE, MTHFR and PAI-1 genes. Gene-environmental interactions may represent an additional pathogenetic dimension in the still challenging management of the abnormalities of the aortic wall, including dilatation, aneurysm and dissection.