Mural thrombus of the aorta in association with homozygous plasminogen activator inhibitor type 1 (PAI-1)-675(4G) and heterozygous GP Ia 807C/T genotypes.
Thrombus formation in the thoracic and abdominal aorta without evidence of arteriosclerotic disease is very uncommon. We present a case of a 50-year-old woman with a mural thrombus of the upper abdominal aorta associated with a combination of two mutations predisposing for thrombophilia. The genetic analysis showed a homozygous mutation of plasminogen activator inhibitor type 1 (PAI-1)-675 (4G) and a heterozygous mutation of GP Ia 807C/T. To our knowledge, this is the first report of the combination of both mutations occurring in a patient with isolated thrombus formation of the aorta.
Beldi
Guido
G
University Center for Vascular Surgery, Aarau/Basel, Switzerland. guido.beldi@ksa.ch
Bissat
Andre
A
Eugster
Thomas
T
Gürke
Lorenz
L
Stierli
Peter
P
Huber
Andreas R
AR
D001012:Aorta, Abdominal / Q000000981:diagnostic imaging*; D001018:Aortic Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006331:Heart Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics*; D010980:Platelet Membrane Glycoproteins / Q000235:genetics*; D011859:Radiography; D013927:Thrombosis / Q000000981:diagnostic imaging / Q000235:genetics*
D017395:Plasminogen Activator Inhibitor 1; D010980:Platelet Membrane Glycoproteins