Rare diseases · Sign or symptom
Cardiomegaly
Enlarged heart
HP:0001640
What it means
Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.
Rare diseases that can present with this53
Very common80–99%
3Common30–79%
20- Alpha-N-acetylgalactosaminidase deficiency type 2
- ATTRV122I amyloidosis
- ATTRV30M amyloidosis
- Coarctation of aorta
- Common arterial trunk
- Complete atrioventricular septal defect
- Congenitally uncorrected transposition of the great arteries
- Congenital tricuspid valve dysplasia
- Coronary arterial fistula
- Craniofaciofrontodigital syndrome
- Double outlet left ventricle
- Familial aortic dissection
- Familial idiopathic dilatation of the right atrium
- Familial thoracic aortic aneurysm and aortic dissection
- Glycogen storage disease due to acid maltase deficiency
- Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
- Tropical endomyocardial fibrosis
- Uhl anomaly
- X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
- Yunis-Varon syndrome
Sometimes5–29%
27- Absence of the pulmonary artery
- Aicardi-Goutières syndrome
- Alpha-N-acetylgalactosaminidase deficiency
- Beckwith-Wiedemann syndrome
- Carnitine palmitoyl transferase II deficiency, neonatal form
- Congenital total pulmonary venous return anomaly
- Congenital toxoplasmosis
- Dysferlin-related limb-girdle muscular dystrophy R2
and 19 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: Increased heart size
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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.