Skip to main content Accessibility help

Atrioventricular septal defects among infants in Europe: a population-based study of prevalence, associated anomalies, and survival

  • Nikolas Christensen (a1), Helle Andersen (a1), Ester Garne (a2), Diana Wellesley (a3), Marie-Claude Addor (a4), Martin Haeusler (a5), Babak Khoshnood (a6), Carmel Mullaney (a7), Judith Rankin (a8) and David Tucker (a9)...



To describe the epidemiology of chromosomal and non-chromosomal cases of atrioventricular septal defects in Europe.


Data were obtained from EUROCAT, a European network of population-based registries collecting data on congenital anomalies. Data from 13 registries for the period 2000–2008 were included.


There was a total of 993 cases of atrioventricular septal defects, with a total prevalence of 5.3 per 10,000 births (95% confidence interval 4.1 to 6.5). Of the total cases, 250 were isolated cardiac lesions, 583 were chromosomal cases, 79 had multiple anomalies, 58 had heterotaxia sequence, and 23 had a monogenic syndrome. The total prevalence of chromosomal cases was 3.1 per 10,000 (95% confidence interval 1.9 to 4.3), with a large variation between registers. Of the 993 cases, 639 cases were live births, 45 were stillbirths, and 309 were terminations of pregnancy owing to foetal anomaly. Among the groups, additional associated cardiac anomalies were most frequent in heterotaxia cases (38%) and least frequent in chromosomal cases (8%). Coarctation of the aorta was the most common associated cardiac defect. The 1-week survival rate for live births was 94%.


Of all cases, three-quarters were associated with other anomalies, both chromosomal and non-chromosomal. For infants with atrioventricular septal defects and no chromosomal anomalies, cardiac defects were often more complex compared with infants with atrioventricular septal defects and a chromosomal anomaly. Clinical outcomes for atrioventricular septal defects varied between regions. The proportion of termination of pregnancy for foetal anomaly was higher for cases with multiple anomalies, chromosomal anomalies, and heterotaxia sequence.


Corresponding author

Correspondence to: H. Andersen, MD, Hans Christian Andersen Children's Hospital, Odense University Hospital, Sdr Boulevard 29, DK-5000, Odense C, Denmark. Tel: +45 6541 1519; Fax: +45 6591 1862; E-mail:


Hide All
1. Anderson, RH, Baker, EJ, Macartney, FJ, Rigby, ML, Shinebourne, EA, Tynan, M. Pediatric Cardiology. Churchill Livingstone, London, 2002, 939981.
2. Dragulescu, A, Fouilloux, V, Ghez, O, Fraisse, A, Kreitmann, B, Metras, D. Complete atrioventricular canal repair under 1 year: Rastelli one-patch procedure yields excellent long-term results. Ann Thorac Surg 2008; 86: 15991604.
3. Boening, A, Scheewe, J, Heine, K, et al. Long-term results after surgical correction of atrioventricular septal defects. Eur J Cardiothorac Surg 2002; 22: 167173.
4. Tennant, PW, Pearce, MS, Bythell, M, Rankin, J. 20-year survival of children born with congenital anomalies: a population-based study. Lancet 2010; 375: 649656.
5. Owens, GE, Gomez-Fifer, C, Gelehrter, S, Owens, ST. Outcome for patients with unbalanced atrioventricular septal defects. Pediatr Cardiol 2009; 30: 431435.
6. Torfs, CP, Christianson, RE. Anomalies in Down syndrome individuals in a large population-based registry. Am J Med Genet 1998; 77: 431438.
7. Huggon, IC, Cook, AC, Smeeton, NC, Magee, AG, Sharland, GK. Atrioventricular septal defects diagnosed in fetal life: associated cardiac and extra-cardiac abnormalities and outcome. J Am Coll Cardiol 2000; 36: 593601.
8. Rasiah, SV, Ewer, AK, Miller, P, Wright, JG, Tonks, A, Kilby, MD. Outcome following prenatal diagnosis of complete atrioventricular septal defect. Prenat Diagn 2008; 28: 95101.
9. Berg, C, Kaiser, C, Bender, F, et al. Atrioventricular septal defect in the fetus – associated conditions and outcome in 246 cases. Ultraschall Med 2009; 30: 2532.
10. Greenlees, R, Neville, A, Addor, M-C, et al. EUROCAT member registries: organization and activities. Birth Defects Res A Clin Mol Teratol 2011; 91 (Suppl 1): S51S100.
11. Boyd, PA, Haeusler, M, Barisic, I, Loane, M, Garne, E, Dolk, H. Paper 1:The EUROCAT Network – organisation and processes. Birth Defects Res A Clin Mol Teratol 2011; 91 (Suppl 1): S2S15.
12. Garne, E, Dolk, H, Loane, M, et al. Paper 5: Surveillance of multiple congenital anomalies: implementation of a computer algorithm in European registers for classification of cases. Birth Defects Res A Clin Mol Teratol 2011; 91 (Suppl 1): S44S50.
13. Peeters, H, Devriendt, K. Human laterality disorders. Eur J Med Genet 2006; 49: 349362.
14. Geva, T, Ayres, NA, Pignatelli, RH, Gajarski, RJ. Echocardiographic evaluation of common atrioventricular canal defects: a study of 206 consecutive patients. Echocardiography 1996; 13: 387400.
15. Maclean, K, Dunwoodie, SL. Breaking symmetry: a clinical overview of left-right patterning. Clin Genet 2004; 65: 441457.
16. Calabrò, R, Limongelli, G. Complete atrioventricular canal. Orphanet J Rare Dis 2006; 1: 8.
17. Miller, A, Siffel, C, Lu, C, Riehle-Colarusso, T, Frías, JL, Correa, A. Long-term survival of infants with atrioventricular septal defects. J Pediatr 2010; 156: 9941000.
18. Machado, MV, Crawford, DC, Anderson, RH, Allan, LD. Atrioventricular septal defect in prenatal life. Br Heart J 1988; 59: 352355.
19. Yıldırım, G, Gungorduk, K, Yazıcıoğlu, F, et al. Prenatal diagnosis of complete atrioventricular septal defect: perinatal and neonatal outcomes. Obstet Gynecol Int 2009; 2009: 958496.
20. Fesslova, V, Villa, L, Nava, S, Boschetto, C, Redaelli, C, Mannarino, S. Spectrum and outcome of atrioventricular septal defect in fetal life. Cardiol Young 2002; 12: 1826.
21. Delisle, MF, Sandor, GG, Tessier, F, Farquharson, DF. Outcome of fetuses diagnosed with atrioventricular septal defect. Obstet Gynecol 1999; 94: 763767.
22. Allan, LD. Atrioventricular septal defect in the fetus. Am J Obstet Gynecol 1999; 181: 12501253.
23. Boyd, PA, DeVigan, C, Khoshnood, B, Loane, M, Garne, E, Dolk, H, and The EUROCAT Working Group. Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down's syndrome. BJOG 2008; 115: 689696.
24. Frøslev-Friis, C, Hjort-Pedersen, K, Henriques, CU, Krogh, LN, Garne, E. Improved prenatal detection of chromosomal anomalies. Dan Med Bull 2011; 58: A4293.
25. Carmi, R, Boughman, JA, Ferencz, C. Endocardial cushion defect: further studies of “isolated” versus “syndromic” occurrence. Am J Med Genet 1992; 43: 569575.
26. Paladini, D, Volpe, P, Sglavo, G, et al. Partial atrioventricular septal defect in the fetus: diagnostic features and associations in a multicenter series of 30 cases. Ultrasound Obstet Gynecol 2009; 34: 268273.
27. Digilio, MC, Marino, B, Toscano, A, Giannotti, A, Dallapiccola, B. Atrioventricular canal defect without Down syndrome: a heterogeneous malformation. Am J Med Genet 1999; 85: 140146.
28. Bini, R. Partial atrioventricular canal. Orphanet encyclopedia, March 2003.
29. Marino, B, Vairo, U, Corno, A, et al. Atrioventricular canal in Down syndrome. Prevalence of associated cardiac malformations compared with patients without Down syndrome. Am J Dis Child 1990; 144: 11201122.
30. ter Heide, H, Thomson, JD, Wharton, GA, Gibbs, JL. Poor sensitivity of routine fetal anomaly ultrasound screening for antenatal detection of atrioventricular septal defect. Heart 2004; 90: 916917.
31. Hartman, RJ, Riehle-Colarusso, T, Lin, A, et al. Descriptive study of nonsyndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997–2005. Am J Med Genet A 2011; 155A: 555564.
32. Ashok, M, Thangavel, G, Indrani, S, Suresh, S. Atrioventricular septal defect – associated anomalies and aneuploidy in prenatal life. Indian Pediatr 2003; 40: 659664.



Full text views

Total number of HTML views: 0
Total number of PDF views: 0 *
Loading metrics...

Abstract views

Total abstract views: 0 *
Loading metrics...

* Views captured on Cambridge Core between <date>. This data will be updated every 24 hours.

Usage data cannot currently be displayed