Cardiovasc Imaging Asia.  2023 Oct;7(4):55-57. 10.22468/cvia.2023.00101.

Pulmonary Embolism in a Young Male With Homozygous Factor V Leiden Mutation

• Farhad A
• Anwar A
• Mian FH
• Ullah I
• Akhtar R
• Ashraf A
• Ahmad F

• KMID: 2551121
• DOI: http://doi.org/10.22468/cvia.2023.00101

Abstract

Venous thromboembolism is a common cardiovascular syndrome that can manifest as a pulmonary embolism (PE). Factor V Leiden (FVL) is a genetic mutation that causes hypercoagulability and increases the risk of PE. We report a rare case of PE due to homozygous FVL in a young Asian male with no other risk factors. The patient presented with chest discomfort and dyspnea suspected to be due to non ST-elevation myocardial infarction. McConnell’s sign on echocardiography led to suspicion of a PE, later confirmed by CT pulmonary angiography. Genetic testing confirmed the presence of the mutation. The patient was treated with anticoagulation therapy.

Keyword

Factor V Leiden; Pulmonary embolism; Thrombophilia; Chest pain; Echocardiography