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      Patent Foramen Ovale—A Not So Innocuous Septal Atrial Defect in Adults

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          Abstract

          Patent foramen ovale (PFO) is a common congenital atrial septal defect with an incidence of 15–35% in the adult population. The development of the interatrial septum is a process that begins in the fourth gestational week and is completed only after birth. During intrauterine life, the foramen ovale allows the passage of highly oxygenated blood from the right to the left atrium and into the systemic arteries, thus bypassing the pulmonary circulation. In 75% of the general population, the foramen ovale closes after birth, and only an oval depression, called fossa ovalis, remains on the right side of the interatrial septum. Patent foramen ovale can be associated with various clinically important conditions, including migraine and stroke, or decompression illness in divers. The aim of this review is to summarize the PFO developmental and anatomical features and to discuss the clinical risks associated with this atrial septal defect in adults.

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          European position paper on the management of patients with patent foramen ovale. General approach and left circulation thromboembolism

          Christian Pristipino, Horst Sievert, Fabrizio D’Ascenzo … (2018)
          The presence of a patent foramen ovale (PFO) is implicated in the pathogenesis of a number of medical conditions; however, the subject remains controversial and no official statements have been published. This interdisciplinary paper, prepared with involvement of eight European scientific societies, aims to review the available trial evidence and to define the principles needed to guide decision making in patients with PFO. In order to guarantee a strict process, position statements were developed with the use of a modified grading of recommendations assessment, development, and evaluation (GRADE) methodology. A critical qualitative and quantitative evaluation of diagnostic and therapeutic procedures was performed, including assessment of the risk/benefit ratio. The level of evidence and the strength of the position statements of particular management options were weighed and graded according to predefined scales. Despite being based often on limited and non-randomised data, while waiting for more conclusive evidence, it was possible to conclude on a number of position statements regarding a rational general approach to PFO management and to specific considerations regarding left circulation thromboembolism. For some therapeutic aspects, it was possible to express stricter position statements based on randomised trials. This position paper provides the first largely shared, interdisciplinary approach for a rational PFO management based on the best available evidence.
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            The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome)

            T Traill, C Basson, A Poznanski … (1994)
            The Holt-Oram syndrome is an autosomal dominant condition characterized by skeletal abnormalities that are frequently accompanied by congenital cardiac defects. The cause of these disparate clinical features is unknown. To identify the chromosomal location of the Holt-Oram syndrome gene, we performed clinical and genetic studies. Two large families with the Holt-Oram syndrome were evaluated by radiography of the hands, electrocardiography, and transthoracic echocardiography. Genetic-linkage analyses were performed with polymorphic DNA loci dispersed throughout the genome to identify a locus that was inherited with the Holt-Oram syndrome in family members. A total of 19 members of Family A had Holt-Oram syndrome with mild-to-moderate skeletal deformities, including triphalangeal thumbs and carpal-bone dysmorphism. All affected members of Family A had moderate-to-severe congenital cardiac abnormalities, such as ventricular or atrial septal defects or atrioventricular-canal defects. Eighteen members of a second kindred (Family B) had Holt-Oram syndrome with moderate-to-severe skeletal deformities, including phocomelia. Twelve of the affected members had no cardiac defects; six had only atrial septal defects. Genetic analyses demonstrated linkage of the disease in each family to polymorphic loci on the long arm of chromosome 12 (combined multipoint lod score, 16.8). These data suggest odds greater than 10(16):1 that the genetic defect for Holt-Oram syndrome is present on the long arm of chromosome 12 (12q2). Mutations in a gene on chromosome 12q2 can produce a wide range of disease phenotypes characteristic of the Holt-Oram syndrome. This gene has an important role in both skeletal and cardiac development.
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              Patent foramen ovale.

              Ralph Sacco, Horst Sievert, Karina Davidson … (2016)
              Patent foramen ovale (PFO) is the most common congenital heart abnormality of fetal origin and is present in approximately ∼25% of the worldwide adult population. PFO is the consequence of failed closure of the foramen ovale, a normal structure that exists in the fetus to direct blood flow directly from the right to the left atrium, bypassing the pulmonary circulation. PFO has historically been associated with an increased risk of stroke, the mechanism of which has been attributed to the paradoxical embolism of venous thrombi that shunt through the PFO directly to the left atrium. However, several studies have failed to show an increased risk of stroke in asymptomatic patients with a PFO, and the risk of stroke recurrence is low in patients who have had a stroke that may be attributed to a PFO. With the advent of transoesophageal and transthoracic echocardiography, as well as transcranial Doppler, a PFO can be routinely detected in clinical practice. Medical treatment with either antiplatelet or anticoagulation therapy is recommended. At the current time, closure of the PFO by percutaneous interventional techniques does not appear to reduce the risk of stroke compared to conventional medical treatment, as shown by three large clinical trials. Considerable controversy remains regarding the optimal treatment strategy for patients with both cryptogenic stroke and PFO. This Primer discusses the epidemiology, mechanisms, pathophysiology, diagnosis, screening, management and effects on quality of life of PFO.
              Article 0 comments Cited 57 times – based on 0 reviews     Review now
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                Author and article information

                Contributors
                Maurice Van den Hoff: Role: Academic Editor
                Journal
                Journal ID (nlm-ta): J Cardiovasc Dev Dis
                Journal ID (iso-abbrev): J Cardiovasc Dev Dis
                Journal ID (publisher-id): jcdd
                Title: Journal of Cardiovascular Development and Disease
                Publisher: MDPI
                ISSN (Electronic): 2308-3425
                Publication date (Electronic): 25 May 2021
                Publication date Collection: June 2021
                Volume: 8
                Issue: 6
                Electronic Location Identifier: 60
                Affiliations
                [1 ]Department of Public Health, University of Naples “Federico II”, 80131 Naples, Italy; veronica.romano@ 123456unina.it (V.R.); carlomaria.gallinoro@ 123456unina.it (C.M.G.); rosi.mottola@ 123456studenti.unina.it (R.M.); alessandro.serio@ 123456unina.it (A.S.); franca.dimeglio@ 123456unina.it (F.D.M.); clotilde.castaldo@ 123456unina.it (C.C.)
                [2 ]Department of Medicine, Surgery and Dentistry “ScuolaMedicaSalernitana”, University of Salerno, 84081 Baronissi, Italy
                Author notes
                Author information
                https://orcid.org/0000-0001-6801-3308
                https://orcid.org/0000-0003-1092-6168
                Article
                Publisher ID: jcdd-08-00060
                DOI: 10.3390/jcdd8060060
                PMC ID: 8228640
                PubMed ID: 34070460
                SO-VID: 27aed709-c589-445b-9de6-ff5e61125826
                Copyright © © 2021 by the authors.
                License:

                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/).

                History
                Date received : 16 April 2021
                Date accepted : 22 May 2021
                Categories
                Subject: Review

                Keywords: foramen ovale,patent foramen ovale,atrial septal defect,diving,decompression illness
                Data availability:
                Keywords: foramen ovale, patent foramen ovale, atrial septal defect, diving, decompression illness

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