Stroke in Young Military Men With Heterozygous for MTHFR Gene Mutation or Factor V Leiden Gene Mutation Associated With Patent Foramen Ovale: Report of Two Cases and Therapeutic Strategy

Mil Med. 2023 Mar 20;188(3-4):e885-e889. doi: 10.1093/milmed/usab192.

Abstract

We report two cases of Brazilian patients (a 22-year-old male and a 48-year-old male) with ischemic stroke, whose arterial vascular study and echocardiographic investigation did not reveal any steno-occlusive arterial disease or typical cardioembolic finding, such as atrial fibrillation or myocardial dysfunction. A transcranial Doppler ultrasound and a transesophageal echocardiogram showed a patent foramen ovale (PFO), and the laboratory screening for coagulation abnormalities showed heterozygosity for MTHFR C677T and A1298C in one of the patients and heterozygosity for factor V Leiden gene mutations in the other patient. The significance of the association of PFO with Methylenetetrahydrofolate (MTHFR) C677T and A1298C variants or factor V Leiden mutation is discussed as a possible cause of ischemic stroke through paradoxical embolism from a venous source. There is a high prevalence of these two mentioned conditions in the general population, so we discuss two cases in which indication for anticoagulant therapy or percutaneous closure of PFO prevails.

Publication types

  • Case Reports

MeSH terms

  • Foramen Ovale, Patent* / complications
  • Foramen Ovale, Patent* / genetics
  • Foramen Ovale, Patent* / therapy
  • Humans
  • Ischemic Stroke* / complications
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics
  • Middle Aged
  • Military Personnel*
  • Mutation
  • Risk Factors
  • Stroke* / genetics
  • Stroke* / prevention & control
  • Young Adult

Substances

  • factor V Leiden
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • MTHFR protein, human

Supplementary concepts

  • Thrombophilia, hereditary