Clinical Report: Discovery of a Prothrombotic Mutation in a Patient with Non-bacterial Thrombotic Endocarditis and Multiple Thrombi

Overview

This case study presents a 14-year-old male with non-bacterial thrombotic endocarditis (NBTE) and extensive venous thrombosis due to a rare F2 gene mutation. The patient underwent surgical intervention and anticoagulation therapy.

Background

Non-bacterial thrombotic endocarditis (NBTE) is a rare condition often associated with malignancy or autoimmune diseases, characterized by sterile valvular vegetations and a high risk of systemic embolization. Diagnosis is complicated by nonspecific symptoms and requires differentiation from infective endocarditis. Genetic factors contributing to thrombophilia in NBTE cases are being studied for their role in management.

Data Highlights

No numerical data or trial data presented in the article.

Key Findings

• A 14-year-old male presented with acute abdominal pain and extensive venous thrombi.
• Imaging revealed a large vegetation on the tricuspid valve, consistent with NBTE.
• Whole-exome sequencing identified a pathogenic F2 gene mutation (F2 c.1621C > T, p.Arg541Trp).
• The patient underwent surgical excision of the vegetation and tricuspid valve repair.
• Anticoagulation therapy was initiated.

Clinical Implications

This case illustrates the potential role of family history and genetic testing in identifying inherited thrombophilia in patients with NBTE.

Conclusion

The discovery of a rare F2 mutation in this patient with NBTE highlights the importance of thorough evaluation in similar cases.

Related Resources & Content

1. Author(s)/Org, Source, Year -- Title
2. Frontiers in Cardiovascular Medicine — Trousseau syndrome presenting with recurrent multi-territory infarctions: a case report of two patients highlighting divergent outcomes and dynamic hypercoagulability under direct oral anticoagulants and low-molecular-weight heparin
3. Frontiers in Pediatrics — Case Report: Hereditary thrombotic thrombocytopenic purpura mimicking immune thrombocytopenia: diagnostic pitfalls of whole-exome sequencing
4. Frontiers in Cardiovascular Medicine — Case Report: HIT-related valve thrombosis in an LVAD patient
5. Genetic Factors Associated with Multiple Arterial Aneurysms in Patients
6. Nonbacterial Thrombotic Endocarditis: Key Points - American College of Cardiology
7. ASH/ISTH Treatment of Venous Thromboembolism in Pediatric Patients Guideline Summary - Guideline Central