Abstract 17233: Primary Intimal Sarcoma Of The Pulmonary Artery In A Patient With Laboratory Confirmed Heterozygous Factor V Leiden Mutation: A Case Report

Abstract

Pulmonary artery intimal sarcoma (PAIS) is a rare tumor associated with progressively increasing dyspnea, atypical chest pain, and pulmonary hypertension. Owing to overlap in presentation, PAIS can be misdiagnosed as pulmonary thromboembolism (PTE). Here we present the case of a 59-year-old male with heterozygous Factor V Leiden mutation, history of deep vein thrombosis (DVT), and recent PTE presenting to urgent care with cough, mild orthopnea, and exertional dyspnea. Transthoracic echocardiogram (TTE) revealed severely dilated right ventricle with moderately decreased function and severe pulmonary hypertension with pulmonary arterial (PA) pressure of 93mmHg. Computed tomography angiography of the chest revealed massive central PTE. Given hemodynamic stability, saturating well on room air and simplified PESI score of 0, Pulmonology recommended discharge with anticoagulation. The patient returned a month later with three weeks of increased dyspnea on exertion, worsened right ventricular function as well as possible new mobile thrombus extending into the right ventricular outflow tract (RVOT). Due to presumed failure of medical therapy, Cardiology placed the patient on venoarterial extracorporeal membrane oxygenation (VA-ECMO) followed by attempted mechanical thrombectomy using both the Angiovac and Penumbra CAT12 systems. Both systems failed to remove substantial material from the PA. The next day, TTE revealed increased PA pressure of 132mmHg.The patient underwent emergent bilateral thromboendarterectomy with a mass discovered involving the pulmonary valve (PV), RVOT, both left and right PAs, along with invasion into the PA wall. The mass was resected, the PV valve replaced, the main PA and left PA reconstructed, and pericardial patch reconstruction of the RVOT was performed. The mass was determined to be a PAIS of French Federation of Comprehensive Cancer Centres (FNCLCC) Grade 3. Two months after uncomplicated recovery, chemotherapy was initiated. Securing the diagnosis of PAIS is challenging. However, collaboration between clinicians, radiologists, and pathologists increases the likelihood of recognizing subtle markers that can differentiate PAIS from illnesses with a similar presentation.