Rare diseases · Sign or symptom
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
HP:0001629
What it means
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Rare diseases that can present with this221
Very common80–99%
26- 22q11.2deletion syndrome
- 8q12microduplication syndrome
- Alagille syndrome
- Brain malformation-congenital heart disease-postaxial polydactyly syndrome
- Congenital Gerbode defect
- Congenitally corrected transposition of the great arteries
- Cooper-Jabs syndrome
- Costello syndrome
- Diabetic embryopathy
- Distal deletion 19p syndrome
- Double outlet left ventricle
- Dysosteosclerosis
- Dysraphism-cleft lip/palate-limb reduction defects syndrome
- Fetal minoxidil syndrome
- Heart defects-limb shortening syndrome
- Microcephaly-cardiac defect-lung malsegmentation syndrome
- Müllerian derivatives-lymphangiectasia-polydactyly syndrome
- Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
- Paternal uniparental disomy of chromosome 6 syndrome
- Pentalogy of Cantrell
- Simpson-Golabi-Behmel syndrome
- Tricuspid atresia
- Trisomy 13 syndrome
- Trisomy 18 syndrome
- X small rings syndrome
- XY type gonadal dysgenesis-associated anomalies syndrome
Common30–79%
53- 14q11.2microdeletion syndrome
- 3C syndrome
- Aortic arch interruption
- Blepharophimosis-intellectual disability syndrome, SBBYS type
- Cloverleaf skull-multiple congenital anomalies syndrome
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- Common arterial trunk
- Congenitally uncorrected transposition of the great arteries
- Congenital rubella syndrome
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
- Criss-cross heart
- De Barsy syndrome
- Desbuquois syndrome
- Distal duplication 5q syndrome
- Double outlet right ventricle
- Down syndrome
- Ellis-Van Creveld syndrome
- Eng-Strom syndrome
- Fetal trimethadione syndrome
- Fixed subaortic stenosis
- Holt-Oram syndrome
- Jacobsen syndrome
- KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome
- Keutel syndrome
- Kleefstra syndrome
- Koolen-De Vries syndrome
- Lambert syndrome
- Limb body wall complex
- Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
- Methimazole embryofetopathy
- Microcephaly-seizures-intellectual disability-heart disease syndrome
- Mosaic trisomy 17 syndrome
- Mosaic trisomy 9 syndrome
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
- Oculoauriculofrontonasal syndrome
- Orofaciodigital syndrome type 14
- PHAVER syndrome
- Pierre-Robin sequence-Manzke dysostosis-clinodactyly of the index finger syndrome
- Polysyndactyly-cardiac malformation syndrome
- Recombinant 8 syndrome
- Scimitar syndrome
- SERKAL syndrome
- Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
- Smith-Lemli-Opitz syndrome
- Spondylo-ocular syndrome
- Tall stature-intellectual disability-renal anomalies syndrome
- Thakker-Donnai syndrome
- Transketolase deficiency
- Trigonocephaly-short stature-developmental delay syndrome
- Umbilical cord ulceration-intestinal atresia syndrome
- X-linked intellectual disability, Nascimento type
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: Ventricular septal defects · Ventriculoseptal defect · VSD
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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.