Rare diseases · Sign or symptom
Systolic heart murmur
HP:0031664
What it means
A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2.
Rare diseases that can present with this16
Common30–79%
13- Aortic arch interruption
- Atrial septal defect, coronary sinus type
- Atrial septal defect, ostium primum type
- Atrial septal defect, ostium secundum type
- Atrial septal defect, sinus venosus type
- Congenital Gerbode defect
- Congenital tricuspid valve dysplasia
- Coronary arterial fistula
- Fixed subaortic stenosis
- Interatrial communication
- Isolated right ventricular hypoplasia
- Supravalvular aortic stenosis
- Tropical endomyocardial fibrosis
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
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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.