Patent foramen ovale, subclinical, inherited thrombophilia, and paradoxical embolism

D. Imperiale, P. Cerrato, C. Baima, M. Grasso, E. Verdun, M. Giraudo, A. M. Marson, F. Carrà, B. Bergamasco

Research output: Contribution to journalArticlepeer-review

Abstract

Background. Inherited defects of coagulation inhibitors (antithrombin III and protein C or S deficiency; resistance to activated protein C, APC-R, prothrombin polymorphism) are involved in venous thromboembolism (also in the cerebral area) but their role in ischemic cerebrovascular disease remains uncertain. Atrial septal abnormalities with right-left shunt (particularly patent foramen ovale, PFO), frequently detected in the general population as well as in stroke patients, may be the "missing link" between asymptomatic deep vein thrombosis (DVT) and cerebral ischemic events. Case reports. Three young women (aged under 45) were referred to our department because of acute neurologic deficits (case 1 : nominal aphasia; case 2: right facio-brachial sensory-motor impairment; case 3: left homonymous hemianopia) with abrupt onset during Valsalva like maneuvers (case 1: sexual activity; case 2:prolonged squatting; case 3: prolonged cough). On neuroimaging, congruous cortical-subcortical ischemic areas (suggesting an embolic mechanism) were evident. Extra- and intracranial cerebral arteries were normal on duplex ultrasonography and conventional angiography. Transesophageal echocardiography detected a PFO with right-left shunt in all the cases. In case 2 PFO was associated with an atrial septal aneurysm. Deep vein ultrasonography did not reveal lower limb DVT. APC-R due to factor V "Leiden" mutation was present in all the patients and was associated to protein S deficiency in cases 1 and 3. Transcatheter closure of septal anomaly succeeded in cases 2 and 3 but failed in case 1. Case 1 is still receiving oral anticoagulants. No further events were reported at the last follow-up visit. Conclusions. The detection of inherited defects of coagulation regulators in young patients with "territorial" (presumed embolic) ischemic stroke and atrial septal abnormalities with right-left shunt may be relevant to therapeutic management. Even in the absence of clinical and instrumental evidence of deep vein thrombosis, clinical data, particularly the onset during Valsalva like maneuvers (for example, physical and sexual activity, squatting, cough, defecation) in which there is increased intrathoracic pressure and inversion of the interatrial shunt, are important to support a paradoxical embolism as stroke mechanism. Even if definite guidelines are lacking, when a paradoxical embolism is supported by clinical and diagnostic studies, a transcatheter closure of PFO may be recommended.

Original languageEnglish
JournalNeurological Sciences
Volume21
Issue number4 SUPPL.
Publication statusPublished - 2000

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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