Fibrinogen Seattle: a qualitatively abnormal fibrinogen in a patient with tetralogy of Fallot.
A dysfibrinogen was detected in the plasma of a 14-year-old asymptomatic Caucasian boy who had tetralogy of Fallot. The mutant molecular species could be traced through four generations in an autosomal dominant type of inheritance pattern. Nine of 14 family members were found to have the coagulopathy. Following laboratory and clinical evaluation, the proband underwent radical repair of the cardiac defect without incident. This variant is tentatively designated fibrinogen Seattle pending further characterization.
D000293:Adolescent; D001778:Blood Coagulation Disorders / Q000097:blood* / Q000235:genetics; D001780:Blood Coagulation Tests; D005340:Fibrinogen; D006801:Humans; D008297:Male; D013771:Tetralogy of Fallot / Q000150:complications*
D005340:Fibrinogen