Rare diseases · Sign or symptom
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
HP:0001631
What it means
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Rare diseases that can present with this197
Very common80–99%
12- 22q11.2deletion syndrome
- Cardiofaciocutaneous syndrome
- Ebstein malformation of the tricuspid valve
- Hamel cerebro-palato-cardiac syndrome
- Heart defects-limb shortening syndrome
- Interatrial communication
- Microcephaly-seizures-intellectual disability-heart disease syndrome
- Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
- TARP syndrome
- Trisomy 13 syndrome
- Trisomy 18 syndrome
- White forelock with malformations
Common30–79%
40- 19p13.12microdeletion syndrome
- 21q deletion syndrome
- 3C syndrome
- 8q12microduplication syndrome
- Abnormal origin of right or left pulmonary artery from the aorta
- Blepharophimosis-intellectual disability syndrome, Ohdo type
- Blepharophimosis-intellectual disability syndrome, SBBYS type
- Brain malformation-congenital heart disease-postaxial polydactyly syndrome
- Congenitally corrected transposition of the great arteries
- Congenitally uncorrected transposition of the great arteries
- Congenital pulmonary valvar stenosis
- Congenital rubella syndrome
- Congenital total pulmonary venous return anomaly
- CTCF-related neurodevelopmental disorder
- Distal deletion 6p syndrome
- Ellis-Van Creveld syndrome
- Fallot complex-intellectual disability-growth delay syndrome
- Fetal alcohol syndrome
- Fetal trimethadione syndrome
- FG syndrome type 1
- Holt-Oram syndrome
- Isolated megalencephaly
- Isolated right ventricular hypoplasia
- KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome
- Koolen-De Vries syndrome
- Lethal Kniest-like dysplasia
- Limb body wall complex
- Lujan-Fryns syndrome
- Lung agenesis-heart defect-thumb anomalies syndrome
- Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
- Pentalogy of Cantrell
- Polysyndactyly-cardiac malformation syndrome
- Recombinant 8 syndrome
- Scimitar syndrome
- Simpson-Golabi-Behmel syndrome
- Smith-Lemli-Opitz syndrome
- Transketolase deficiency
- Tricuspid atresia
- Wolf-Hirschhorn syndrome
- X-linked intellectual disability, Golabi-Ito-Hall type
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: ASD · Atria septal defect · Atrial septum defect · Atrioseptal defect · Defect in the atrial septum · Hole in heart wall separating two upper heart chambers
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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.