Rare diseases · Sign or symptom
Abnormal cardiovascular system morphology
HP:0030680
What it means
Any structural anomaly of the heart and blood vessels.
Rare diseases that can present with this206
Very common80–99%
31- 22q11.2deletion syndrome
- Abnormal origin of right or left pulmonary artery from the aorta
- Antley-Bixler syndrome
- Beemer-Ertbruggen syndrome
- Cardiofaciocutaneous syndrome
- Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
- Congenital fibrinogen deficiency
- Congenital heart defect-round face-developmental delay syndrome
- Criss-cross heart
- Diabetic embryopathy
- Ebstein malformation of the tricuspid valve
- Ellis-Van Creveld syndrome
- Endocardial fibroelastosis
- Genitopalatocardiac syndrome
- Holt-Oram syndrome
- Holzgreve syndrome
- Lower limb malformation-hypospadias syndrome
- McDonough syndrome
- Mosaic trisomy 14 syndrome
- Mucolipidosis type II
- Multifocal infantile hemangioma with extracutenous involvement
- Noonan syndrome
- Oculoauriculovertebral spectrum with radial defects
- PAGOD syndrome
- Pentalogy of Cantrell
- Pseudoxanthoma elasticum
- Thomas syndrome
- Trisomy 13 syndrome
- Trisomy 18 syndrome
- Verloove Vanhorick-Brubakk syndrome
- X-linked Ehlers-Danlos syndrome
Common30–79%
49- 10q22.3q23.3microduplication syndrome
- 17p11.2microduplication syndrome
- 1p36deletion syndrome
- 2q37microdeletion syndrome
- 8p23.1duplication syndrome
- 8p23.1microdeletion syndrome
- Acquired von Willebrand syndrome
- Acrocraniofacial dysostosis
- Acrofacial dysostosis, Rodríguez type
- ALG3-CDG
- Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
- Ataxia-photosensitivity-short stature syndrome
- Autosomal recessive cutis laxa type 1
- Axenfeld-Rieger syndrome
- Carpenter syndrome
- Cat-eye syndrome
- Caudal regression syndrome
- CHARGE syndrome
- CHST3-related skeletal dysplasia
- Congenital diaphragmatic hernia
- Congenital tracheal stenosis
- C syndrome
- Distal deletion 10p syndrome
- Distal duplication 15q syndrome
- Distal duplication 18q syndrome
- Down syndrome
- Holoprosencephaly-postaxial polydactyly syndrome
- Hydrolethalus
- Iniencephaly
- Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
- Keipert syndrome
- Larynx atresia
- Lowry-MacLean syndrome
- Matthew-Wood syndrome
- Methylmalonic acidemia with homocystinuria
- Mitochondrial DNA-related cardiomyopathy and hearing loss
- Monosomy 13q14 syndrome
- Mucolipidosis type III
- Neurofaciodigitorenal syndrome
- Noonan syndrome with multiple lentigines
- Oculoectodermal syndrome
- Osteogenesis imperfecta
- Pierre-Robin sequence-Manzke dysostosis-clinodactyly of the index finger syndrome
- Postaxial acrofacial dysostosis
- Recombinant 8 syndrome
- Renal agenesis, bilateral
- Roberts syndrome
- Rubinstein-Taybi syndrome
- Rubinstein-Taybi syndrome due to CREBBP mutations
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: Abnormality of cardiovascular system morphology · Cardiovascular malformations
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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.