Saddle pulmonary embolism as the initial presentation of prothrombin gene mutation G20210A

Description

A Hispanic man aged 28 years with intermittent tobacco and cocaine use presented to the emergency department with acute shortness of breath for 2 days duration in addition to brief calf pain a few days prior that had resolved. He had sustained tachycardia 120–130 bpm but otherwise unremarkable examination, chest X-ray (figure 1) and EKG. D-dimer was elevated at 2586 ng/mL. CT angiogram revealed extensive thrombus burden, including saddle emboli (figure 2), and segmental and subsegmental emboli (figure 3). Echocardiogram showed severely enlarged right ventricle (figure 4) with markedly elevated right systolic ventricular pressure of 54 mm Hg (figure 5). Owing to concern of impending cardiovascular collapse, catheter-guided thrombolysis of pulmonary embolism (PE) was carried out. During the angiogram, a near occlusive right popliteal vein thrombus with extension to femoral vein was identified and treated with thrombectomy followed by inferior vena cava filter...

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