Ascending aortic aneurysm in a patient with bicuspid aortic valve, positive history of systemic autoimmune diseases and common genetic factors: a case report.
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.
Foffa
Ilenia
I
Institute of Clinical Physiology, Massa, Italy.
Festa
Pier Luigi
PL
Ait-Ali
Lamia
L
Mazzone
Annamaria
A
Bevilacqua
Stefano
S
Andreassi
Maria Grazia
MG
D001013:Aorta, Thoracic / Q000002:abnormalities*; D017545:Aortic Aneurysm, Thoracic / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D001018:Aortic Diseases / Q000151:congenital*; D001021:Aortic Valve / Q000002:abnormalities*; D004108:Dilatation, Pathologic; D005820:Genetic Testing; D005838:Genotype; D006330:Heart Defects, Congenital / Q000150:complications*; D006801:Humans; D006973:Hypertension / Q000150:complications; D007037:Hypothyroidism / Q000150:complications; D008180:Lupus Erythematosus, Systemic / Q000150:complications*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D012307:Risk Factors; D013167:Spondylitis, Ankylosing / Q000150:complications* / Q000601:surgery