To present a case of non-bacterial thrombotic endocarditis (NBTE) in a previously healthy adolescent male, emphasizing the diagnostic challenges and the role of genetic evaluation in identifying a pathogenic variant linked to inherited thrombophilia.
Approach:
Case Presentation: A 14-year-old male presented with acute abdominal pain and extensive thrombi. Imaging revealed a large vegetation on the tricuspid valve. Genetic evaluation identified a pathogenic variant in the F2 gene.
Management: The patient underwent surgical excision of the vegetation and tricuspid valve repair, followed by anticoagulation therapy.
Key Findings:
The patient had a pathogenic heterozygous variant in the F2 gene (F2 c.1621C > T, p.Arg541Trp), confirming hereditary thrombophilia.
At one-year follow-up, imaging showed recanalization of the portal and splenic veins without recurrent thrombosis.
Interpretation:
This case presents an atypical manifestation of NBTE with significant venous thrombosis associated with a rare genetic mutation.
Limitations:
The case is based on a single patient, which limits the generalizability of the findings.
There are no established guidelines for the treatment of NBTE, complicating management strategies.
Conclusion:
This case highlights the importance of recognizing NBTE and the potential role of genetic predispositions in its presentation.
