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.
case_report · Level V
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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.
Medical subject headings
- Aorta, Abdominal
- Aortic Diseases
- Heart Diseases
- Heterozygote
- Homozygote
- Plasminogen Activator Inhibitor 1
- Platelet Membrane Glycoproteins
- Thrombosis