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A 32 year old man presented with shortness of breath following spontaneous left lower extremity deep venous thrombosis and subsequent multiple pulmonary emboli, documented with ventilation-perfusion lung scintigram. He had no previous medical history of this nature.
Despite adequate anticoagulation the patient gradually developed signs of right ventricular failure with bilateral lower extremity pittingoedema and hepatomegaly. Cardiac examination was significant for a left parasternal lift, a loud S2, and a third heart sound. An ECG (below) revealed right ventricular hypertrophy with secondary ST and T wave changes, right axis deviation, as well as right and left atrial hypertrophy. An echocardiogram revealed the presence of severe pulmonary hypertension with an estimated systolic pulmonary artery pressure of 80 mm Hg, right ventricular dilatation, and a right ventricular ejection fraction of 30%. A second ventilation-perfusion scan was consistent with extension of the previously noted perfusion defects, and an inferior vena cava filter was placed. The pulmonary angiogram revealed multiple proximal and distal defects in branches of both pulmonary arteries. An attempt to lyse the thrombi with intravenous streptokinase did not improve pulmonary artery pressures, or the patient's symptoms.
The patient underwent successful pulmonary endarterectomy which confirmed the diagnosis of thromboembolic pulmonary hypertension and led to subjective and functional improvement.
During an investigation for hypercoagulable state the only abnormality detected was a double heterozygosity for factor V Leiden and the G 20210 prothrombin mutation genes. This association is reported for the first time as causing thromboembolic pulmonary hypertension.