Rare diseases · Sign or symptom
Right ventricular hypertrophy
HP:0001667
What it means
In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.
Rare diseases that can present with this18
Common30–79%
8- Bronchopulmonary dysplasia
- Common arterial trunk
- Complete atrioventricular septal defect
- Congenital Gerbode defect
- Congenitally uncorrected transposition of the great arteries
- Congenital tricuspid valve dysplasia
- Familial idiopathic dilatation of the right atrium
- Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
Sometimes5–29%
7- Classic multiminicore myopathy
- Combined oxidative phosphorylation defect type 23
- Dysferlin-related limb-girdle muscular dystrophy R2
- Macrocephaly-intellectual disability-left ventricular non compaction syndrome
- Mucolipidosis type III alpha/beta
- Multiple congenital anomalies-hypotonia-seizures syndrome
- Neonatal acute respiratory distress syndrome due to SP-B deficiency
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: Heart right ventricle hypertrophy
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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.