دورية أكاديمية

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.

التفاصيل البيبلوغرافية
العنوان: 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.
المؤلفون: Brisson RT; Division of Neurology, Hospital Naval Marcílio Dias, Rio de Janeiro, Rio de Janeiro 20725-090, Brazil., Arruda JFL; Division of Neurology, Hospital Naval Marcílio Dias, Rio de Janeiro, Rio de Janeiro 20725-090, Brazil., Silva LD; Division of Neurology, Hospital Naval Marcílio Dias, Rio de Janeiro, Rio de Janeiro 20725-090, Brazil., de Jesus DLJ; Division of Neurology, Hospital Naval Marcílio Dias, Rio de Janeiro, Rio de Janeiro 20725-090, Brazil., Zetola VF; Neurosonology Laboratory, Cerebrovascular Disease Unit, Federal University of Paraná, Curitiba, Paraná 80060-000, Brazil., Kauffmann Nogueira MAC; Division of Neurology, Hospital Naval Marcílio Dias, Rio de Janeiro, Rio de Janeiro 20725-090, Brazil.
المصدر: Military medicine [Mil Med] 2023 Mar 20; Vol. 188 (3-4), pp. e885-e889.
نوع المنشور: Case Reports; Journal Article
اللغة: English
بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 2984771R Publication Model: Print Cited Medium: Internet ISSN: 1930-613X (Electronic) Linking ISSN: 00264075 NLM ISO Abbreviation: Mil Med Subsets: MEDLINE
أسماء مطبوعة: Publication: 2018- : Oxford : Oxford University Press
Original Publication: Washington, D.C. : Association of Military Surgeons, United States, 1955-
مواضيع طبية MeSH: Foramen Ovale, Patent*/complications , Foramen Ovale, Patent*/genetics , Foramen Ovale, Patent*/therapy , Ischemic Stroke*/complications , Military Personnel* , Stroke*/genetics , Stroke*/prevention & control, Humans ; Male ; Middle Aged ; Young Adult ; Methylenetetrahydrofolate Reductase (NADPH2)/genetics ; Mutation ; Risk Factors
مستخلص: 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.
(© The Association of Military Surgeons of the United States 2021. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
المشرفين على المادة: 0 (factor V Leiden)
EC 1.5.1.20 (Methylenetetrahydrofolate Reductase (NADPH2))
EC 1.5.1.20 (MTHFR protein, human)
SCR Disease Name: Thrombophilia, hereditary
تواريخ الأحداث: Date Created: 20210516 Date Completed: 20230324 Latest Revision: 20230412
رمز التحديث: 20240628
DOI: 10.1093/milmed/usab192
PMID: 33993312
قاعدة البيانات: MEDLINE
الوصف
تدمد:1930-613X
DOI:10.1093/milmed/usab192