Intra-atrial thrombosis and homozygous factor V Leiden mutation

A 55-year-old woman with a previous history of thrombotic manifestations developed large left atrial thrombosis. Coagulative screening demonstrated the presence of severe activated protein C resistance due to homozygous factor V Leiden mutation that could explain the thrombophilic state in this patient. No other associated coagulation defects predisposing to thrombosis were identified. At the time of diagnosis of intra-atrial thrombosis, the patient presented with a moderate mitral valve stenosis and atrial fibrillation of recent onset. Both these conditions may account for the presence of left atrial thrombosis but it is suggested that inherited thrombophilia due to homozygous factor V Leiden mutation might have represented an additional predisposing factor for the development of the thrombotic phenomenon. The role of coagulation defects predisposing to thrombosis in the pathogenesis of intracardial thrombosis in patients with or without valvular diseases is still unknown and proper studies are required.