Ascending aortic aneurysm in a patient with bicuspid aortic valve, positive history of systemic autoimmune diseases and common genetic factors: a case report

doi:10.1186/1476-7120-7-34

Cardiovascular Ultrasound

Volume 7

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Foffa I
Festa PL
Ait-Ali L
Mazzone A
Bevilacqua S
Andreassi MG

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Festa PL
Ait-Ali L
Mazzone A
Bevilacqua S
Andreassi MG
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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

Ilenia Foffa¹^,2 , Pier Luigi Festa³ , Lamia Ait-Ali³ , Annamaria Mazzone³ , Stefano Bevilacqua³ and Maria Grazia Andreassi¹^,3

¹Institute of Clinical Physiology, Massa, Italy

²The Sant'Anna School of Advanced Studies, Pisa, Italy

³G. Monasterio Foundation, CNR-Regione Toscana, G: Pasquinucci Hospital, Massa, Italy

author email corresponding author email

Cardiovascular Ultrasound 2009, 7:34doi:10.1186/1476-7120-7-34


Published:	6 July 2009

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.