Patent Foramen Ovale
Contents. #Introduction · #Definition · #Key Concepts · #Detection and Anatomy · #Indication for Closure · #Indications Beyond Stroke · #Rationale and Pathophysiology · #Contradictions / Open Questions · #Connections · #Sources
Detailed pages. concepts/PFO-Detection-and-Anatomy · concepts/PFO-Closure-Selection · concepts/PFO-Non-Stroke-Indications
Introduction
A patent foramen ovale is a flap of fetal atrial septal tissue that never fused — a tunnel, not a hole — present in about a quarter of all adults and harmless in almost all of them. Its clinical importance is entirely conditional: it matters only when something crosses it. The consequence is a diagnostic problem unlike most in cardiology, because the structure is common, the disease is rare, and demonstrating that this PFO caused this stroke is a probabilistic argument rather than a measurement.
- Prevalence ~25% of adults, mean tunnel diameter 4.9 mm, and causal involvement in ~10% of ischaemic strokes in patients aged 18–60; paradoxical embolism accounts for about 5% of all strokes and 10% of strokes in the young (sources/pfo-jama-2025, rating: high; sources/pfo-eso-2024, rating: very high).
- The question is causation, not closure. Roughly 50% of patients ≤60 with an embolic stroke of undetermined source have a PFO, against 25% of the population — so half of the PFOs found are incidental (sources/pfo-jama-2025).
- Recurrence on medical therapy is low and the effect is heterogeneous. 1.09 per 100 patient-years in the pooled trials, reduced 59% by closure (adjusted HR 0.41, 2-year ARR 1.72%, NNT about 50) — but concentrated almost entirely in patients whose stroke was probably PFO-related (HR 0.10) and absent in those in whom it was unlikely (HR 1.14) (sources/pfo-jama-2021, rating: very high).
- Closing the hole settles only the recurrences the hole caused. Adjudicated PFO-associated recurrence fell 76% (HR 0.24) against 59% for all ischaemic recurrence — the difference is the proportion of second strokes that were never going to be prevented.
- Anatomy modifies the effect. A large shunt plus an atrial septal aneurysm gives a 5.5% absolute reduction at 2 years and an NNT of 14–18; the trial that selected on morphology alone had no strokes in the closure arm (sources/pfo-jacc-2018, rating: high).
- Two current guidelines disagree on whether anatomy should gate the decision — SCAI 2022 makes its strong recommendation independent of anatomy; ESO 2024 withholds it in PASCAL "unlikely" patients (sources/pfo-jscai-2022, rating: very high; sources/pfo-eso-2024).
- The outcome patients care about most is the one that did not reach significance. Disability-worsening recurrent stroke had HR 0.59 (0.37–1.22), P=.14 — the only failed efficacy endpoint in the meta-analysis, limited by missing functional data (sources/pfo-jama-2021).
Abbreviations: ASA, atrial septal aneurysm · APT, antiplatelet therapy · c-TCD, contrast transcranial Doppler · c-TOE, contrast transoesophageal echocardiography · c-TTE, contrast transthoracic echocardiography · DCI, decompression illness · ESUS, embolic stroke of undetermined source · ILR, implantable loop recorder · OAC, oral anticoagulation · PASCAL, PFO-Associated Stroke Causal Likelihood · PFO, patent foramen ovale · POS, platypnea-orthodeoxia syndrome · RLS, right-to-left shunt · RoPE, Risk of Paradoxical Embolism
Definition
A patent foramen ovale is a persistent tunnel between the septum primum and septum secundum, allowing a right-to-left shunt when right atrial pressure transiently exceeds left. It is not a deficiency of atrial septal tissue — that is an atrial septal defect, and the distinction governs everything downstream, because a PFO needs a pressure gradient to shunt and an ASD shunts continuously.
PFO-associated stroke — the term that replaced "cryptogenic stroke with a PFO" in a 2020 nomenclature proposal — is an ischaemic stroke with a cortical, large white-matter or retinal infarct in a patient with a PFO and no other identified likely cause. The redefinition matters because it moves the PFO from a finding adjacent to the diagnosis into the diagnosis itself, and thereby makes the causal question explicit.
Key Concepts
- Right-to-left shunt is intermittent. A PFO shunts during Valsalva, cough, straining, or any transient rise in right atrial pressure — which is why the history often contains a Valsalva at stroke onset, and why the examination uses one.
- Three proposed mechanisms: paradoxical embolism of a venous thrombus; in situ thrombus formation within the interatrial tunnel; and atrial arrhythmia arising from disruption of interatrial conduction. The second is the reason closure can be justified without finding a venous source.
- Selection dominates outcome. The first three randomised trials were negative; the later ones were positive largely because they enrolled younger patients, used antiplatelet-only comparators, followed longer, or selected on anatomy.
- A significant interaction is not the same as a useful one. RoPE produces a statistically significant treatment interaction (P=.02) while every RoPE stratum benefits, so it cannot guide a decision; PASCAL earns its place only because its "unlikely" stratum is a genuine null. The distinction between relative-scale heterogeneity and absolute-scale decision-making is the single most transferable idea in this literature.
- The procedure is safe in the aggregate and harmful in the subgroup that does not benefit — post-45-day atrial fibrillation rises 4.41% in PASCAL "unlikely" against 0.65% in "probable".
- Closure is not a cure for stroke risk. After the device, stroke risk remains ~6-fold the general population and tracks vascular risk factors.
Detection and Anatomy
Full detail: concepts/PFO-Detection-and-Anatomy.
No test is a gold standard, and the conventional reference is imperfect. Contrast transcranial Doppler is the most sensitive screen (0.96) but cannot see the septum; contrast transthoracic echocardiography is specific (0.99) but insensitive (0.71) — a fair screen and a bad rule-out; contrast transoesophageal echocardiography allows anatomical measurement but has a sensitivity of only 0.89 against autopsy, surgery or catheterisation, partly because Valsalva is difficult under sedation. ESO 2024 consequently issues no evidence-based recommendation on diagnosis at all, only consensus: local algorithms, TCD when echo is inconclusive, and TOE after a positive screen to define anatomy.
Anatomy is not decoration — it is the second axis of the treatment decision. Atrial septal aneurysm (≥10 mm excursion), a large shunt (>20 bubbles within 3 cardiac cycles at TOE, or >10 high-intensity transient signals at TCD), septal hypermobility and PFO size each predict recurrence and each raise the treatment effect.
Indication for Closure
Full detail: concepts/PFO-Closure-Selection.
Close the PFO in a patient aged 18–60 with a PFO-associated stroke, when the PFO is more likely than not to have been the cause. The decision takes two steps, and it is the second one that changes management.
Step 1 — RoPE asks whether this PFO caused this stroke. Add a point for each favourable feature, then the age score (sources/pfo-jama-2025, rating: high).
| Factor | Points |
|---|---|
| No hypertension | 1 |
| No diabetes | 1 |
| No prior stroke or TIA | 1 |
| Non-smoker | 1 |
| Cortical infarct on imaging | 1 |
| Age 18–29 / 30–39 / 40–49 / 50–59 / 60–69 / ≥70 | 5 / 4 / 3 / 2 / 1 / 0 |
The score converts into a probability that the PFO is pathogenic rather than incidental:
| RoPE total | PFO prevalence in that stratum | PFO-attributable fraction |
|---|---|---|
| <3 | 23% | ≈0 |
| 9–10 | 77% | ≈90% |
RoPE is a causal-probability instrument, not a recurrence-risk score, and using it as one is the commonest error made with it. A high score means the stroke was probably caused by the PFO; it does not mean another stroke is likely.
Step 2 — PASCAL adds anatomy, and this is where the decision is made. The anatomy is a large shunt (>20 bubbles in the left atrium) and/or an atrial septal aneurysm (≥10 mm excursion from midline) (sources/pfo-jama-2021, rating: very high).
| High RoPE (≥7) | High-risk anatomy | Category | HR (95% CI) | 2-year ARR | NNT | Decision |
|---|---|---|---|---|---|---|
| No | No | Unlikely (~15%) | 1.14 (0.53–2.46) | −0.7% (−4.0 to 2.6) | — | Do not close |
| No | Yes | Possible | 0.38 (0.22–0.65) | 2.1% (0.6–3.6) | 47 | Close |
| Yes | No | Possible | 0.38 (0.22–0.65) | 2.1% (0.6–3.6) | 47 | Close |
| Yes | Yes | Probable | 0.10 (0.03–0.35) | 2.1% (0.9–3.4) | 47 | Close |
- Three labels, two decisions. Possible and probable give the same 2.1% absolute reduction and the same NNT of 47; the usable discrimination is "unlikely" versus everything else. The apparent three-tier gradient overstates the precision of the absolute numbers.
- "Unlikely" is a null on both scales — the only stratum where the point estimate crosses 1 and the absolute difference is negative. It is also the stratum where the device does the most harm: post-45-day atrial fibrillation rises 4.41% (1.02–7.80) there, against 0.65% (−0.41 to 1.71) in "probable".
What the decision buys. Annualised stroke risk on medical therapy is 1.09% against 0.47% with closure, an adjusted HR of 0.41 (0.28–0.60) and a 2-year ARR of 1.72% — an NNT of about 47, comparable to antihypertensives, antiplatelets and statins in secondary prevention. When a large shunt and an aneurysm coexist the ARR rises to 5.5% (2.7–8.3) and the NNT falls to 14–18; morphological selection alone produced no strokes in the closure arm of DEFENSE-PFO (sources/pfo-jama-2021; sources/pfo-jacc-2018).
The edges of the evidence. Both guidelines agree on closure plus antiplatelet therapy within 18–60, and both concede there is nothing behind the boundaries: 34 over-60 patients randomised in one trial, one patient under 18 in another, leaving the group with the highest stroke incidence — and the highest competing risk — managed by consensus. No trial has compared closure with a direct oral anticoagulant, and every trial enrolled within months of the index stroke, so timing rests on consensus rather than data (sources/pfo-eso-2024, rating: very high; sources/pfo-jscai-2022).
Indications Beyond Stroke
Full detail: concepts/PFO-Non-Stroke-Indications.
Eight scenarios have no trial evidence behind them. One is for closure — platypnea-orthodeoxia, on a 14-point rise in oxygen saturation; one by analogy — systemic embolism, on three patients; six against — migraine, decompression illness, thrombophilia, isolated atrial septal aneurysm, TIA and DVT. The migraine verdict is the counter-intuitive one: three randomised trials failed their primary endpoints, a post-hoc pooled analysis found a nine-fold rise in complete cessation, and SCAI recommends against routine closure while conceding that refractory patients may reasonably choose it. Every recommendation is conditional, and all but migraine rest on very low certainty (sources/pfo-jscai-2022, rating: very high).
Rationale and Pathophysiology
Why a small hole causes a large stroke. A PFO is a filter bypass. The pulmonary capillary bed normally removes small venous thrombi; a shunt of a few millimetres is wide enough to pass an embolus large enough to occlude a cerebral branch. The brain is the organ that notices, both because the anatomical path reaches it first — emboli must pass the cerebral circulation to reach the renal, splenic or peripheral arteries — and because neural tissue tolerates brief ischaemia worse than any other.
Why it is intermittent. The tunnel is held closed by left atrial pressure exceeding right. Anything that reverses that gradient — Valsalva, cough, defecation, lifting, a breath-hold dive — opens it. This explains the clinical features that sit outside the scores: Valsalva at stroke onset, recent prolonged immobility or air travel, obstructive sleep apnoea, and the striking association with decompression illness in divers, where the shunt allows nitrogen bubbles to bypass the lung.
Why the effect size varies so much between patients. The probability that a given PFO caused a given stroke is a product of two things: how likely a paradoxical embolus was in that patient (young, no vascular risk factors, cortical infarct, no atrial fibrillation) and how permissive the anatomy is (shunt size, aneurysm, tunnel length). RoPE measures the first, PASCAL adds the second. When both are favourable the treatment effect is large; when the first is unfavourable the "PFO-associated" stroke was probably due to occult AF or small-vessel disease, and closing the PFO removes nothing while adding a device that provokes AF.
Why the harm concentrates where the benefit does not. Older patients with vascular risk factors have both a lower attributable fraction and a higher risk of procedure- and device-related AF. The same variables that make a PFO unlikely to be causal make the atrium more likely to fibrillate after an occluder is sewn into it. This is not a paradox but a consequence: the two outcomes share a substrate. That is the strongest argument in the literature for using a causal-likelihood instrument before, rather than after, offering the procedure.
Contradictions / Open Questions
- Two guideline bodies disagree on whether anatomy should gate closure. SCAI 2022 issues a strong recommendation independent of shunt size or aneurysm, on the grounds that subgroup data are too thin to withhold treatment. ESO 2024 recommends closure in general but specifically suggests against it in PASCAL "unlikely" patients, and points to large shunt plus aneurysm as the group with most to gain. A 40-year-old with a small shunt and no aneurysm is closed under one framework and not under the other.
- There is no gold standard for detecting the thing being treated. Contrast TOE, against which every diagnostic estimate is measured, has a sensitivity of 89% against autopsy, surgery or catheterisation. Pooled sensitivities for TCD and TTE are therefore relative to a test that misses about one PFO in nine, and an unknown number of "unlikely" patients may simply have been under-imaged.
- Causal probability and absolute benefit move in opposite directions. High RoPE scores predict that the PFO caused this stroke, but patients with RoPE 9–10 have a 2-year recurrence of only 2%. The patients most likely to have had a PFO-related stroke have the least absolute risk to reduce — which is a problem for any policy built on attributable fraction alone.
- Harm and benefit land in the same patients, in opposite directions. Post-45-day atrial fibrillation rises 4.41% in PASCAL "unlikely" and 0.65% in "probable"; the device hurts the people it does not help. This is the strongest available argument for a causal-likelihood instrument, and it is also why the instrument is not merely an academic refinement.
- The escape clause for closing an "unlikely" patient sits outside the evidence base rather than merely beneath it. ESO's consensus licenses closure in PASCAL "unlikely" patients with DVT or PE near the index stroke, straddling thrombus, hypercoagulability or platypnea-orthodeoxia. The SCOPE analysis states that the extended PASCAL categories covering those very patients could not be evaluated, because they "were not identified in the study data." A clinician following that consensus is treating a subgroup that the largest dataset in the field explicitly could not examine. (sources/pfo-jama-2021, rating: very high)
- The strongest evidence has not shown that closure prevents disabling stroke. Disability-worsening recurrent stroke — the outcome defined by what the patient experiences — was HR 0.59 (0.37–1.22), P=.14, and the only efficacy endpoint that failed. Missing functional-outcome data is a reasonable explanation; it is not a result.
- No trial has compared closure with a direct oral anticoagulant. The only randomised anticoagulation arm is CLOSE — 92.8% warfarin, 7.2% DOAC — and the closure-versus-anticoagulation comparison was a non-prespecified post-hoc analysis. Contemporary medical therapy is a DOAC, so the comparison that would matter clinically has not been done.
- Closure does not restore population-level stroke risk. Four years after the device, stroke risk is 2.5% against 0.4% in the general population (HR 6.3), and it tracks hypertension, diabetes, dyslipidaemia and smoking rather than the PFO. Closing the shunt while leaving the vascular risk untreated treats the mechanism and not the patient.
- The two guideline documents are written by the two specialties with different stakes, and they read that way. The interventional society produces a strong anatomy-independent recommendation and eight recommendations in areas with no trials; the neurological society produces an admission that the diagnostic question is unanswerable and a weak recommendation against treating the patients least likely to benefit. Neither is wrong. A reader should know which document was written by whom.
- Pregnancy is explicitly excluded by ESO 2024, which notes that PFO-related stroke in pregnancy "necessitates dedicated pathways and a multidisciplinary approach" and declines to address it. A young woman with a PFO-associated stroke is precisely the patient for whom the reproductive and the neurological questions collide, and the guideline says nothing.
Connections
- Related to concepts/PFO-Detection-and-Anatomy — the diagnostic problem and the anatomy that gates treatment
- Related to concepts/PFO-Closure-Selection — RoPE, PASCAL and the trial evidence
- Related to concepts/PFO-Non-Stroke-Indications — migraine, diving, platypnea-orthodeoxia and the rest
- Related to entities/Ischemic-Stroke — cryptogenic stroke and ESUS, the population in which PFO is found
- Related to entities/Atrial-Fibrillation — the competing cause, and the complication of closure
- Related to concepts/Poststroke-AF-Monitoring — how much monitoring is enough before attributing a stroke to a PFO
- Related to concepts/Atrial-Septal-Defect — the structural differential; a PFO is not an ASD
- Related to concepts/Intracardiac-Shunts — shunt physiology and quantification
- Related to entities/Pulmonary-Embolism — the venous source, and PFO as a right-to-left shunt in acute PE
- Related to concepts/Sports-Cardiology-SDM — diving, decompression illness and restriction advice
- Related to entities/DCM — paradoxical embolism as an occasional embolic source in cardiomyopathy
Sources
Guidelines
- sources/pfo-eso-2024 — European Stroke Organisation, 2024: diagnosis, closure, anticoagulation, post-procedural management
- sources/pfo-jscai-2022 — SCAI, 2022: 13 recommendations including all the non-stroke indications
The pooled primary evidence
- sources/pfo-jama-2021 — SCOPE individual-patient-data meta-analysis of all six trials: the source of PASCAL and of every effect estimate below
Reviews and trials
- sources/pfo-jama-2025 — Kent & Wang, 2025: RoPE, PASCAL and the heterogeneity of treatment effect
- sources/pfo-jacc-2018 — DEFENSE-PFO: morphology-selected closure, NNT 10