Rare diseases · Sign or symptom
Atrioventricular canal defect
HP:0006695
What it means
A defect of the atrioventricular septum of the heart.
During atrioventricular valvuloseptal morphogenesis, the endocardial cushions expand as they are infiltrated by extracellular matrix secreted from the surrounding myocardium. The cushions then fuse and are remodeled to form the atrioventricular valves and septa. Failure of this process results in AVSD, with the degree of severity dependent on the stage at which the developmental failure occurs. AVSD are a spectrum of cardiac malformations that result in a persistent common atrioventricular canal.
Rare diseases that can present with this23
Common30–79%
9Sometimes5–29%
13- 10q22.3q23.3microdeletion syndrome
- 8q24.3microdeletion syndrome
- Congenital alveolar capillary dysplasia
- Eisenmenger syndrome
- Fixed subaortic stenosis
- Geleophysic dysplasia
- Holt-Oram syndrome
- Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
and 5 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: Atrioventricular septal defect · Endocardial cushion defect · Hole in center of heart · Hole in centre of heart
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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.