Concurrent massive pulmonary embolism and brachial artery embolism in a genetic background

While it is well known that some genetic factors definitively increase the risk for arterial or venous thrombosis, it is still controversial whether or not that risk is augmented by plasminogen activator inhibitor 1 (PAI- 1) and angiotensin converting enzyme (ACE) D/D mutations. This study presents a patient with concurrent pulmonary thromboembolism and brachial artery embolism, who showed PAI-1 and ACE D/D mutations in genetic analyses. The patient, a 56-year-old male, presented to the emergency department with complaints of chest pain, pain in the left arm, shortness of breath, and fainting. The physical examination and diagnostic workup revealed concurrent massive pulmonary thromboembolism and brachial artery embolism. Transesophageal echocardiography did not display any intracardiac shunt. The patient recovered with thrombolytic treatment and surgical brachial artery embolectomy. In conclusion, it should be kept in mind that venous and arterial thromboembolism may coincide with the presence of genetic risk factors, and intracardiac shunts should be investigated for possible paradoxical embolism