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Closure of a Patent Foramen Ovale (PFO): An Intervention Sequence
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Mutations in the NKX2-5 gene in patients with stroke and patent foramen ovale

Robert Belvís1, Eduardo F Tizzano, Joan Martí-Fàbregas

  • 1Stroke Unit of the Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Spain. 32353rbn@comb.es

Clinical Neurology and Neurosurgery
|May 26, 2009
PubMed
Abstract

Insights

Patent foramen ovale (PFO) is linked to stroke, but its cause is unclear. This study investigated the NKX2-5 gene in stroke patients, finding limited mutations but suggesting a potential role in PFO persistence.

Area of Science:

  • Cardiovascular Genetics
  • Neurology
  • Molecular Biology

Background:

  • Patent foramen ovale (PFO) is a common cardiac anomaly associated with an increased risk of stroke, particularly cryptogenic stroke.
  • The genetic underpinnings of PFO persistence and its link to stroke remain incompletely understood.
  • The NKX2-5 gene plays a crucial role in embryonic heart development and atrial septation.

Purpose of the Study:

  • To investigate the association between the NKX2-5 gene and the presence of PFO in patients who have experienced a stroke.
  • To analyze NKX2-5 gene variations in relation to PFO, right-to-left shunt (RLS) size, and atrial septal aneurysm (ASA) in stroke patients.

Main Methods:

  • Prospective analysis of 100 consecutive stroke patients and 50 controls.
  • DNA analysis of the entire coding region and intron-exon boundaries of the NKX2-5 gene using PCR and sequencing.
  • Assessment of PFO, RLS, and ASA using transesophageal echocardiography.

Main Results:

  • Patent foramen ovale (PFO) was diagnosed in 34% of stroke patients.
  • A novel NKX2-5 gene variant (c.2357G>A) was identified in one PFO patient with cryptogenic stroke.
  • Previously described mutations (c.182C>T) were found in two non-PFO women with cryptogenic stroke; these were not in controls.
  • The c.172A>G polymorphism was more frequent in patients with ASA and cryptogenic PFO stroke.

Conclusions:

  • While NKX2-5 gene mutations were rarely detected in peripheral blood DNA, the study suggests a potential, albeit limited, role for NKX2-5 in the persistence of PFO.
  • Further research may be needed to explore other genetic or environmental factors contributing to PFO and stroke.
  • The findings highlight the complexity of PFO's etiology in stroke patients.

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