Clinical outcomes and a high prevalence of abnormalities on comprehensive arterial and venous thrombophilia screening in TIA or ischaemic stroke patients with a patent foramen ovale, an inter-atrial septal aneurysm or both

Introduction: Data are limited on the optimal management of cryptogenic TIA/stroke patients with a patent foramen ovale (PF0) inter-atrial septal aneurysm (IASA), especially with an inherited thrombophilia. Methods: Prospectively-collected data on TIA/ischaemic stroke patients with PFO, IASA or both who received 'goal directed secondary-prevention medical treatment were analysed. All patients had trans-oesophageal echocardiography, anti-nuclear, anti-cardiolipin, anti-beta 2 glycoprotein I antibodies, rheumatoid factor, lupus anticoagulant, protein C&S, anti-thrombin, factor VIII activity, activated protein C resistance, Factor V Leiden, prothrombin gene and MTHFR-c.677C>T mutation screening. ENA and homocysteine were assessed in the latter study period. Results: Eighty-three patients were recruited. Mean follow-up: 48.1 months. Forty-seven patients (56.6%) had an isolated PFO, 32 (38.6%) a PFO and an IASA, and 4 (4.8%) an IASA alone. Eighteen (21.7%) had abnormality on thrombophilia screening. The most important abnormalities which lead to treatment changes in 11 patients (13.3%) were primary anti-phospholipid syndrome (N = 3; 3.6%), protein S deficiency (N = 2; 2.4%) hyperhomocysteinaemia (N = 6/72 screened, 8.3%). Four patients (4.8%) opted for PF0 closure: two with protein S deficiency, and two with no identified thrombophilia. Seven (8.4%) had recurrent TIA/ischaemic stroke during followup (overall annualised incidence: 2.1%), of whom five had a PFO alone and two a PFO and IASA. Discussion: Comprehensive arterial and venous thrombophilia screening is warranted in TIA/ischaemic stroke patients with a PFO f IASA, is conclusively abnormal in over a fifth, and informed important decision-making regarding individualised therapy in 13.3% of patients. The incidence of recurrent vascular events in this population is low on optimal, personalised secondary-prevention treatment, even with an underlying thrombophilia. (C) 2017 Elsevier B.V. All rights reserved.