Rare diseases · Sign or symptom
Heart murmur
Heart murmurs
HP:0030148
What it means
An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart.
Heart murmurs can be appreciated by auscultation of the heart by stethoscope. Murmurs can be further categorized by intensity (6 grades), duration, timing (systolic, diastolic, or continuous), location, transmission, and quality (musical, vibratory, blowing, etc).
Rare diseases that can present with this34
Very common80–99%
8Common30–79%
14- Aneurysm of sinus of Valsalva
- Congenitally corrected transposition of the great arteries
- Double outlet right ventricle
- Eisenmenger syndrome
- Glycogen storage disease due to acid maltase deficiency
- Glycogen storage disease due to acid maltase deficiency, infantile onset
- Homozygous familial hypercholesterolemia
- Idiopathic pulmonary arterial hypertension
- Kallmann syndrome-heart disease syndrome
- Partial atrioventricular septal defect
- Ring chromosome 7 syndrome
- Tetrasomy 5p syndrome
- Trisomy 8p syndrome
- Univentricular heart
Sometimes5–29%
11- Abnormal origin of right or left pulmonary artery from the aorta
- Aorto-ventricular tunnel
- Brachydactyly-short stature-retinitis pigmentosa syndrome
- Carcinoid syndrome
- Hereditary bullous dystrophy, macular type
- Idiopathic/heritable pulmonary arterial hypertension
- Idiopathic pulmonary hemosiderosis
- Peripartum cardiomyopathy
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. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Cardiac murmur · Cardiac murmurs
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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.