Fig. 1

A, B Computed Tomography Pulmonary Angiography and lower extremity venous ultrasound at initial hospitalization: suggestive of a large filling defect in the right pulmonary artery trunk, consistent with pulmonary embolism. A hypoechoic mass with no blood flow signal was found in the left popliteal vein, suggestive of lower extremity deep vein thrombosis. C Placement of filter in inferior vena cava. D After 2 weeks of anticoagulant therapy, Computed Tomography Pulmonary Angiography showed a decrease in the size of the main pulmonary artery thrombus. E Whole exome sequencing revealed a heterozygous NM000313.3: C200A>C mutation in the PROS1 gene in the patient. Arrows: Sequencing double peaks indicate an A to C mutation