Rare diseases · Sign or symptom
Aortic regurgitation
HP:0001659
What it means
An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.
Rare diseases that can present with this48
Common30–79%
16- 9q31.1q31.3microdeletion syndrome
- Aneurysm of sinus of Valsalva
- Aneurysm-osteoarthritis syndrome
- Autosomal dominant cutis laxa
- Cardiac-valvular Ehlers-Danlos syndrome
- Common arterial trunk
- Familial aortic dissection
- Familial thoracic aortic aneurysm and aortic dissection
- Fixed subaortic stenosis
- FLNA-related X-linked myxomatous valvular dysplasia
- Grange syndrome
- Hydrocephaly-tall stature-joint laxity syndrome
- Marfan syndrome
- Mucolipidosis type III alpha/beta
- Periventricular nodular heterotopia
- Sneddon syndrome
Sometimes5–29%
21- 19p13.12microdeletion syndrome
- 2p15p16.1microdeletion syndrome
- Acquired von Willebrand syndrome
- Antiphospholipid syndrome
- Antisynthetase syndrome
- Aortic arch interruption
- Behçet disease
- Cogan syndrome
and 13 more in this range
Rare1–4%
8- Alpha-mannosidosis, adult form
- Alpha-mannosidosis, infantile form
- DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
- Enthesitis-related juvenile idiopathic arthritis
- Intellectual disability syndrome due to a DYRK1A point mutation
- Loeffler endocarditis
- Osteogenesis imperfecta
- Trichohepatoenteric syndrome
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 insufficiency · Aortic valve regurgitation
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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.