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Case Report: Non-bacterial thrombotic endocarditis and multiple thrombi uncover a hidden prothrombotic mutation
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DOI：10.3389/fcvm.2026.1775477.png)
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Abstract
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BackgroundNon-bacterial thrombotic endocarditis (NBTE) is a rare; sterile valvular condition associated with hypercoagulable states; malignancy; or autoimmune diseases. Diagnosis is challenging due to nonspecific symptoms and unknown cause.Case presentationA 14-year-old male presented with acute-onset severe abdominal pain. Imaging studies revealed extensive thrombi involving multiple organ veins; as well as a large vegetation on the tricuspid valve; consistent with NBTE. Although routine thrombophilia screening was unremarkable; a significant family history of thrombotic events prompted further genetic evaluation. Whole-exome sequencing identified a pathogenic heterozygous variant in the F2 gene (F2 c.1621C > T; p.Arg541Trp); confirming an underlying hereditary thrombophilia. The patient underwent successful surgical excision of the vegetation with tricuspid valve repair. Anticoagulation therapy resulted in complete resolution of symptoms; and long-term management was initiated to mitigate recurrent thrombosis risk.OutcomeAt one-year follow-up; repeat imaging showed recanalization of the portal and splenic veins without recurrent thrombosis; underscoring the effectiveness of anticoagulation.ConclusionThis case demonstrates an atypical NBTE presentation with tricuspid valve involvement and extensive venous thrombosis due to a rare F2 mutation. The successful treatment reflects the importance of early recognition; multidisciplinary management and detailed consultation.
Keywords:
case report
hereditary thrombophilia
F2 gene
non-bacterial thrombotic endocarditis
tricuspid valve vegetation
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