Atrioventricular septal defects (AVSDs) comprise of a relatively wide range of defects involving the atrial septum, ventricular septum and one or both of the tricuspid or mitral valve. They can represent 2 - 7% of congenital heart defects.
The estimated prevalence is at ~ 3 - 4 of 10,000 births.
It results from deficient development of the apical portion or the atrial septum, basal portion of the inter-ventricular septum as well as atrio-ventricular valves. All four chambers of the heart communicate therefore both left to right and right to left shunts can occur.
Many have been used but can be broadly divided into
- Down syndrome - trisomy 21 : may be present in up to 50% of cases 4
- trisomy 18 : may be present in up to 25 % of cases ref.
- Ivermark syndrome : may be present in up to 10% of cases 4
Plain film features are often not specific but may show have cardiomegaly + / - features of pulmonary hypertension and mitral valve insufficiency.
Ultrasound - echocardiography /
Allows direct visualisation of the defect spectrum and often a large defect of the midline heart structures are seen. Colour Doppler often aids in further visualisation of the central opening.
An AVSD can give a classical "Goose neck" sign on a lateral left ventricular angiogram 3
Allows direct visualisation of defect spectrum. Can be superior in assessing cardiac chamber dimensions and to assess the presence/extent of ventricular hypoplasia which is a determinant of surgical risk.
- 1. Barboza JM, Dajani NK, Glenn LG et-al. Prenatal diagnosis of congenital cardiac anomalies: a practical approach using two basic views. Radiographics. 22 (5): 1125-37. Radiographics (full text) - Pubmed citation
- 2. Wang ZJ, Reddy GP, Gotway MB et-al. Cardiovascular shunts: MR imaging evaluation. Radiographics. 2003;23 Spec No (suppl 1): S181-94. doi:10.1148/rg.23si035503 - Pubmed citation
- 3. Ferguson EC, Krishnamurthy R, Oldham SA. Classic imaging signs of congenital cardiovascular abnormalities. Radiographics. 27 (5): 1323-34. doi:10.1148/rg.275065148 - Pubmed citation
- 4. Entezami M, Albig M, Knoll U et-al. Ultrasound Diagnosis of Fetal Anomalies. Thieme. (2003) ISBN:1588902129. Read it at Google Books - Find it at Amazon
- 5. Langford K, Sharland G, Simpson J. Relative risk of abnormal karyotype in fetuses found to have an atrioventricular septal defect (AVSD) on fetal echocardiography. Prenat. Diagn. 2005;25 (2): 137-9. doi:10.1002/pd.1037 - Pubmed citation
- 6. Loffredo CA, Hirata J, Wilson PD et-al. Atrioventricular septal defects: possible etiologic differences between complete and partial defects. Teratology. 2001;63 (2): 87-93. doi:10.1002/1096-9926(200102)63:23.0.CO;2-5 - Pubmed citation
Synonyms & Alternative Spellings
|Synonyms or Alternative Spelling||Include in Listings?|
|Atrioventricular septal defect||✗|
|Endocardial cushion defect||✓|
|Atrioventricular septal defect (AVSD)||✗|
|Atrioventricular canal defect||✓|
|AV canal defect||✗|