Headache and Neurosonology Unit, Neurology, Campus Bio-Medico University Hospital, Via Alvaro del Portillo, 200, 00128 Rome, Italy.
Neurology Unit, "M. Bufalini" Hospital, AUSL Romagna, Viale Giovanni Ghirotti, 286, 47521 Cesena, Italy.
Genes (Basel). 2021 Dec 6;12(12):1953. doi: 10.3390/genes12121953.
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 gene, the remaining reported variants of chromosome 4q25 and the 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.
卵圆孔未闭（PFO）是一种常见的心脏房间隔后天缺陷。已经报道了一定程度的家族聚集性。动物研究表明 Notch 通路和其他心脏转录因子（GATA4、TBX20、NKX2-5）参与了卵圆孔的闭合。本综述评估了遗传改变在 PFO 发育中的作用。我们系统地回顾了评估 PFO 患者罕见和常见变异的研究。该方案已在 PROSPERO 上注册，并遵循 MOOSE 指南。我们系统地搜索了截至 2021 年 6 月 30 日报道 PFO 患者变异率的英语研究。在 1231 项研究中，我们纳入了四项研究：其中两项评估了 基因，其余两项分别报道了染色体 4q25 和 S377G 变异。除了在房颤患者中发现的染色体 4q25 的 rs2200733 变异外，我们没有发现任何与 PFO 相关的变异。尽管到目前为止证据稀少，但动物研究和其他不符合纳入标准的研究表明 PFO 存在强大的遗传背景。需要更多关于 PFO 遗传决定因素的研究。
