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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...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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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. |
format | Online Article Text |
id | pubmed-8700998 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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