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Closure of a Patent Foramen Ovale (PFO): An Intervention Sequence
10:52

Closure of a Patent Foramen Ovale (PFO): An Intervention Sequence

Published on: December 23, 2022

[Patent foramen ovale: "les liaisons dangereuses" between anatomy and genetics]

Nicoletta Botto1, Lamia Ait-Ali, Rosa Sicari

  • 1Istituto di Fisiologia Clinica, Consiglio Nazionale delle Ricerche, Pisa. botto@ifc.cnr.it

Recenti Progressi in Medicina
|September 4, 2009
PubMed

Insights

Genetic screening for thrombotic mutations is crucial in young patients with patent foramen ovale (PFO) and ischemic events. Early identification aids in developing effective secondary prevention strategies for these individuals.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Neurology

Background:

  • Patent foramen ovale (PFO) is a potential risk factor for ischemic events, particularly in younger populations.
  • Thrombotic mutations are increasingly recognized as contributors to cerebrovascular events.

Observation:

  • Two young male patients, aged 24 and 17, presented with transient ischemic attacks (TIAs).
  • Both patients were diagnosed with PFO.
  • Genetic analysis revealed Factor V Leiden heterozygosity in one patient and prothrombin G20210A heterozygosity in the other.

Findings:

  • Both patients were carriers of the MTHFR 677T genotype.
  • Elevated plasma homocysteine levels (22.3 +/- 3.9 micromol/L) were observed in both patients.
  • The combination of PFO and thrombotic mutations suggests a significant risk for ischemic events.

Implications:

  • These findings underscore the importance of genetic screening for thrombotic mutations in young patients experiencing PFO-related ischemic events.
  • Implementing genetic screening can enhance secondary prevention strategies.
  • Personalized risk assessment and management are vital for preventing recurrent ischemic episodes in this demographic.

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