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The Genetic Landscape of Patent Foramen Ovale: A Systematic Review

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 r...

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Autores principales: Paolucci, Matteo, Vincenzi, Chiara, Romoli, Michele, Amico, Giulia, Ceccherini, Isabella, Lattanzi, Simona, Bersano, Anna, Longoni, Marco, Sacco, Simona, Vernieri, Fabrizio, Pascarella, Rosario, Valzania, Franco, Zedde, Marialuisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8700998/
https://www.ncbi.nlm.nih.gov/pubmed/34946902
http://dx.doi.org/10.3390/genes12121953
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author Paolucci, Matteo
Vincenzi, Chiara
Romoli, Michele
Amico, Giulia
Ceccherini, Isabella
Lattanzi, Simona
Bersano, Anna
Longoni, Marco
Sacco, Simona
Vernieri, Fabrizio
Pascarella, Rosario
Valzania, Franco
Zedde, Marialuisa
author_facet Paolucci, Matteo
Vincenzi, Chiara
Romoli, Michele
Amico, Giulia
Ceccherini, Isabella
Lattanzi, Simona
Bersano, Anna
Longoni, Marco
Sacco, Simona
Vernieri, Fabrizio
Pascarella, Rosario
Valzania, Franco
Zedde, Marialuisa
author_sort Paolucci, Matteo
collection PubMed
description 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.
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spelling pubmed-87009982021-12-24 The Genetic Landscape of Patent Foramen Ovale: A Systematic Review Paolucci, Matteo Vincenzi, Chiara Romoli, Michele Amico, Giulia Ceccherini, Isabella Lattanzi, Simona Bersano, Anna Longoni, Marco Sacco, Simona Vernieri, Fabrizio Pascarella, Rosario Valzania, Franco Zedde, Marialuisa Genes (Basel) Review 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. MDPI 2021-12-06 /pmc/articles/PMC8700998/ /pubmed/34946902 http://dx.doi.org/10.3390/genes12121953 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Paolucci, Matteo
Vincenzi, Chiara
Romoli, Michele
Amico, Giulia
Ceccherini, Isabella
Lattanzi, Simona
Bersano, Anna
Longoni, Marco
Sacco, Simona
Vernieri, Fabrizio
Pascarella, Rosario
Valzania, Franco
Zedde, Marialuisa
The Genetic Landscape of Patent Foramen Ovale: A Systematic Review
title The Genetic Landscape of Patent Foramen Ovale: A Systematic Review
title_full The Genetic Landscape of Patent Foramen Ovale: A Systematic Review
title_fullStr The Genetic Landscape of Patent Foramen Ovale: A Systematic Review
title_full_unstemmed The Genetic Landscape of Patent Foramen Ovale: A Systematic Review
title_short The Genetic Landscape of Patent Foramen Ovale: A Systematic Review
title_sort genetic landscape of patent foramen ovale: a systematic review
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8700998/
https://www.ncbi.nlm.nih.gov/pubmed/34946902
http://dx.doi.org/10.3390/genes12121953
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