scholarly journals The Genetic Landscape of Patent Foramen Ovale: A Systematic Review

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1953
Author(s):  
Matteo Paolucci ◽  
Chiara Vincenzi ◽  
Michele Romoli ◽  
Giulia Amico ◽  
Isabella Ceccherini ◽  
...  
Keyword(s):  
Patent Foramen Ovale ◽  
Animal Studies ◽  
Familial Aggregation ◽  
Notch Pathway ◽  
Genetic Alterations ◽  
Foramen Ovale ◽  
Genetic Determinants ◽  
Genetic Landscape ◽  
Cardiac Transcription Factors ◽  
Reporting Rates

Patent Foramen Ovale (PFO) is a common postnatal defect of cardiac atrial septation. A certain degree of familial aggregation has been reported. Animal studies suggest the involvement of the Notch pathway and other cardiac transcription factors (GATA4, TBX20, NKX2-5) in Foramen Ovale closure. This review evaluates the contribution of genetic alterations in PFO development. We systematically reviewed studies that assessed rare and common variants in subjects with PFO. The protocol was registered with PROSPERO and followed MOOSE guidelines. We systematically searched English studies reporting rates of variants in PFO subjects until the 30th of June 2021. Among 1231 studies, we included four studies: two of them assessed the NKX2-5 gene, the remaining reported variants of chromosome 4q25 and the GATA4 S377G variant, respectively. We did not find any variant associated with PFO, except for the rs2200733 variant of chromosome 4q25 in atrial fibrillation patients. Despite the scarceness of evidence so far, animal studies and other studies that did not fulfil the criteria to be included in the review indicate a robust genetic background in PFO. More research is needed on the genetic determinants of PFO.

Percutaneous Treatment of Congenital Defects of the Inter-atrial Septum in Adults – Recent Advances and Persistent Pitfalls

2009 ◽  
Vol 4 (1) ◽  
pp. 76
Author(s):  
James Slater ◽  
Mark Fisch ◽  
◽  
Keyword(s):  
Atrial Septal Defect ◽  
Adult Patient ◽  
Patent Foramen Ovale ◽  
Septal Defect ◽  
Percutaneous Treatment ◽  
Atrial Septum ◽  
Congenital Defects ◽  
Foramen Ovale ◽  
Anatomy And Physiology ◽  
Specific Tissue

William Harvey was the first scientist to describe the heart as consisting of separate right- and left-sided circulations. Our understanding of the heart’s anatomy and physiology has grown significantly since this landmark discovery in 1628. Today, we recognise not only the importance of these separate systems, but also the specific tissue that divides them. Our growing understanding of the inter-atrial septum has allowed us to identify defects within this structure and develop effective percutaneous devices for closure of these defects in the adult patient. This article discusses the formation of a patent foramen ovale (PFO) and atrial septal defect (ASD). In addition, we describe the medical illnesses caused by these defects and summarise the indications and risks related to percutaneous closure of these defects. We also report the most up-to-date transcatheter therapeutic options for closure of these common congenital defects in the adult patient.

Stroke Prophylaxis by Percutaneous Closure of Patent Foramen Ovale and Left Atrial Appendage

2011 ◽  
Vol 6 (1) ◽  
pp. 67
Author(s):  
Antonio L Bartorelli ◽  
Claudio Tondo ◽  
◽  
Keyword(s):  
Left Atrial ◽  
Patent Foramen Ovale ◽  
Stroke Risk ◽  
Left Atrial Appendage ◽  
Cryptogenic Stroke ◽  
Atrial Appendage ◽  
Foramen Ovale ◽  
Percutaneous Procedures ◽  
Cerebrovascular Events

Innovative percutaneous procedures for stroke prevention have emerged in the last two decades. Transcatheter closure of the patent foramen ovale (PFO) is performed in patients who suffered a cryptogenic stroke or a transient ischaemic attach (TIA) in order to prevent recurrence of thromboembolic events. Percutaneous occlusion of the left atrial appendage (LAA) has been introduced to reduce stroke risk in patients with atrial fibrillation (AF). The role of PFO and LAA in the occurrence of cerebrovascular events and the interventional device-based therapies to occlude the PFO and LAA are discussed.

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