Rare diseases · Sign or symptom
Abnormal heart valve morphology
HP:0001654
What it means
Any structural abnormality of a cardiac valve.
In everyday care
Most people with this sign do not have a rare disease — it appears in common conditions far more often. These general reference pages cover the same topic:
Rare diseases that can present with this38
Very common80–99%
9- Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
- Cardiac-valvular Ehlers-Danlos syndrome
- Cardiofaciocutaneous syndrome
- Common arterial trunk
- Ellis-Van Creveld syndrome
- Hurler-Scheie syndrome
- Hurler syndrome
- Short stature-valvular heart disease-characteristic facies syndrome
- Takayasu arteritis
Common30–79%
11The 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: Abnormality of the heart valves · Valvular abnormality · Valvular heart disease
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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.