Rare diseases · Sign or symptom
Mitral valve prolapse
HP:0001634
What it means
One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
Mitral valve prolapse can be associated with mitral regurgitation.
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 this53
Very common80–99%
7- Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
- Cardiospondylocarpofacial syndrome
- Dahlberg-Borer-Newcomer syndrome
- Frank-Ter Haar syndrome
- Intellectual disability-seizures-macrocephaly-obesity syndrome
- Neonatal Marfan syndrome
- Short stature-valvular heart disease-characteristic facies syndrome
Common30–79%
16- Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Central core disease
- Classical-like Ehlers-Danlos syndrome type 2
- Costello syndrome
- FLNA-related X-linked myxomatous valvular dysplasia
- Hypermobile Ehlers-Danlos syndrome
- Hypogonadism-mitral valve prolapse-intellectual disability syndrome
- Marfan syndrome
- Mucolipidosis type III
- Noonan syndrome with multiple lentigines
- Shprintzen-Goldberg syndrome
- Stickler syndrome
- Stickler syndrome type 1
- Tall stature-intellectual disability-renal anomalies syndrome
- Vascular Ehlers-Danlos syndrome
- Williams syndrome
Sometimes5–29%
22- 8p11.2deletion syndrome
- Atypical Werner syndrome
- Autosomal dominant polycystic kidney disease
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
- Brittle cornea syndrome
- Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
- Cap myopathy
- Cardiac-valvular Ehlers-Danlos syndrome
and 14 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
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.