Circulation Journal
Online ISSN : 1347-4820
Print ISSN : 1346-9843
ISSN-L : 1346-9843

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Right Ventricular Thrombosis With Extensive Pulmonary Embolism as the First Manifestation of Thrombophilia
Jiajun GuoYuanwei XuKe WanShi ChenYucheng Chen
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JOURNAL OPEN ACCESS FULL-TEXT HTML Advance online publication

Article ID: CJ-22-0245

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A 24-year-old Asian male complaining of progressive shortness of breath after activity was admitted to an inpatient clinic without known disease. On admission, computed tomography pulmonary angiography demonstrated an extensive filling defect of the bilateral pulmonary arteries and a dilated pulmonary trunk (Figure A). Cardiac magnetic resonance confirmed a well-defined mass attached to the right ventricular (RV) wall with moderately decreased RV systolic function (Figure B). The mass had a hypointense T1-weighted and hyperintense T2-weighted signal, without enhancement on late gadolinium enhancement imaging (Figure C). No increased uptake by the mass was found on positron emission tomography-computed tomography (Figure D). Vascular ultrasound detected no deep venous thrombosis in the lower extremities. Laboratory tests showed elevated plasma fibrinogen (8.53 g/L), fibrin degradation products (12.9 mg/L), D-dimer (10.81 mg/L) and NT-pro-B-type natriuretic peptide (1,825 ng/L). The thrombotic panel revealed protein C and S activities at 125.6% and 133.7%, respectively, Factor VIII and IX activities at 165.9% and 122.7%, respectively, but normal antithrombin activity. Prothrombin time was 11.4 s and activated partial thromboplastin time was 30.5 s with negative antibody panels.

Figure.

(A) Filling defect of the bilateral pulmonary arteries. (B,C) Cardiac magnetic resonance images showing the mass in the right ventricle (arrow). (D) No increased uptake on positron emission tomography-computed tomography. The small green arrow indicates the location of the cardiac mass. (E) De novo point mutation of 1000A>G in the Factor V gene (arrow). (F) Gross image of the thrombus (2.5×2×0.3 cm) from the right ventricle. Pathological images of (G) the right ventricular wall and (H) the pulmonary artery thrombus. Images were identified correctly for G and H.

The patient underwent RV thrombectomy and bilateral pulmonary artery intimal exfoliation and thrombectomy. A dark red thrombus (2.5×2×0.3 cm) were extracted from the RV (Figure F,G). Genomic evaluation revealed a novel point mutation of 1000A>G in Factor V (FV), which caused the substitution from arginine to glycine at position 334 (Figure E), confirming the diagnosis of FV-related thrombophilia. Lifelong anticoagulation therapy was initiated.1

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