Ischemic cerebrovascular disease caused by genetic mutation and patent foramen ovale

Eruyar E., Honca T., Bakır F.

TURKISH JOURNAL OF BIOCHEMISTRY, vol.48, no.5, pp.581-585, 2023 (SCI-Expanded)

  • Publication Type: Article / Article
  • Volume: 48 Issue: 5
  • Publication Date: 2023
  • Doi Number: 10.1515/tjb-2023-0187
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, Food Science & Technology Abstracts, Directory of Open Access Journals
  • Page Numbers: pp.581-585
  • Lokman Hekim University Affiliated: Yes


Abstract Objectives: The search for genetic mutations is very important in younger patients and other age groups with a history of recurrent cerebrovascular diseases (CVD) and a family history of other causes to be excluded. The aim of this study is to define the characteristics of genetic mutations in the etiology of ischemic stroke. Methods: Twenty-three patients with acute CVD in the last 1 year and only genetic mutations acknowledged in the etiology were retrospectively analyzed. We determined the frequency of the genetic mutations that are observed in cerebral arterial events (CAE) and cerebral venous thrombosis (CVT). Results: All patients had at least one genetic mutation and 19 of them had arterial events and 4 had venous thrombosis. MTHFR mutation was the most common mutation and PAI-1 mutation was the second in line for the arterial events. PAI 4G/5G, MTHFR A1298 and FV mutations were most frequently observed in venous events. Patent foramen ovale (PFO) was detected in 14 patients (%74) with CAE. Conclusions: We concluded that multiple gene mutations may significantly increase the development of CVD. CVD is most commonly associated with MTHFR, PAI-1 or FV gene mutations and is most commonly seen in CAE. MTHFR mutations showed moderate linear correlation in the development of arterial events and FXII and FXIII mutations in venous events. The association of thrombophilia and PFO is high in patients who have undergone CAE, especially responsible for recurrent events. This study will need to be confirmed by prospective studies with larger sample and control group.

Keywords: stroke; genetic mutations; patent foramen ovale; cerebrovascular disease; thrombophilia