title: 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.
abstract: 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.
authors.affiliation: University Center for Vascular Surgery, Aarau/Basel, Switzerland. guido.beldi@ksa.ch
authors.forename: Guido
authors.initials: G
authors.lastname: Beldi
authors.forename: Andre
authors.initials: A
authors.lastname: Bissat
authors.forename: Thomas
authors.initials: T
authors.lastname: Eugster
authors.forename: Lorenz
authors.initials: L
authors.lastname: Gürke
authors.forename: Peter
authors.initials: P
authors.lastname: Stierli
authors.forename: Andreas R
authors.initials: AR
authors.lastname: Huber
mesh_terms: 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*
chemical_list: D017395:Plasminogen Activator Inhibitor 1; D010980:Platelet Membrane Glycoproteins