Rare diseases · Sign or symptom
Aortic valve stenosis
Narrowing of aortic valve
HP:0001650
What it means
The presence of a stenosis (narrowing) of the aortic valve.
Aortic stenosis can lead to a pressure gradient between the left ventricle and the aorta and may result in left ventricular hypertrophy and decreased left ventricular compliance.
Rare diseases that can present with this51
Very common80–99%
3Common30–79%
6Sometimes5–29%
30- Acquired von Willebrand syndrome
- AL amyloidosis
- Antiphospholipid syndrome
- Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
- Congenital alveolar capillary dysplasia
- Coronary arterial fistula
- Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
- Craniofaciofrontodigital syndrome
and 22 more in this range
Rare1–4%
11- 7q11.23microduplication syndrome
- ATTRV122I amyloidosis
- Cardiac diverticulum
- DYRK1A-related intellectual disability syndrome
- DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
- Intellectual disability syndrome due to a DYRK1A point mutation
- Loeffler endocarditis
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
and 3 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, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Aortic stenosis · Valvular aortic stenosis
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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.