Rare diseases · Sign or symptom
Aortic root aneurysm
Bulge in wall of root of large artery that carries blood away from heart
HP:0002616
What it means
An abnormal localized widening (dilatation) of the aortic root.
Rare diseases that can present with this23
Very common80–99%
4Common30–79%
4Sometimes5–29%
12- Autosomal dominant polycystic kidney disease
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
- Cap myopathy
- Classical Ehlers-Danlos syndrome
- Classical-like Ehlers-Danlos syndrome type 2
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- Familial cerebral saccular aneurysm
- Familial thoracic aortic aneurysm and aortic dissection
and 4 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: Aortic root dilatation · Enlarged aortic root · Increased aortic root diameter
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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.