Rare diseases · Sign or symptom
Patent foramen ovale
HP:0001655
What it means
Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.
The foramen ovale is located in the atrial septum and is essential for proper fetal circulation. With separation from the placenta and with the first few breaths, the left atrium fills with blood returning from the lungs and closes the foramen ovale. Subsequently, during the first years of life, the foramen ovale seals shut.
Rare diseases that can present with this42
Very common80–99%
2Common30–79%
3Sometimes5–29%
28- Absence of the pulmonary artery
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- Congenital heart block
- Congenital tricuspid valve dysplasia
- Coronary arterial fistula
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Distal deletion 12q syndrome
- Gabriele-de Vries syndrome
and 20 more in this range
Rare1–4%
9- ALG12-CDG
- Brain-lung-thyroid syndrome
- Cardiac diverticulum
- Fatal infantile lactic acidosis with methylmalonic aciduria
- Houge-Janssens syndrome type 1
- Laubry-Pezzi syndrome
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
and 1 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Persistent foramen ovale · PFO
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.