Hostname: page-component-78c5997874-fbnjt Total loading time: 0 Render date: 2024-11-13T01:59:17.112Z Has data issue: false hasContentIssue false
  • English
  • Français

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

Published online by Cambridge University Press:  27 November 2012

Nikolas Christensen ,
Helle Andersen ,
Ester Garne ,
Diana Wellesley ,
Marie-Claude Addor ,
Martin Haeusler ,
Babak Khoshnood ,
Carmel Mullaney ,
Judith Rankin  and
David Tucker
Nikolas Christensen
Affiliation:
Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark
Helle Andersen*
Affiliation:
Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark
Ester Garne
Affiliation:
Paediatric Department, Hospital Lillebaelt, Kolding, Denmark
Diana Wellesley
Affiliation:
Faculty of Medicine and Wessex Clinical Genetics Service, University Hospital Southampton, Southampton, United Kingdom
Marie-Claude Addor
Affiliation:
Division of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
Martin Haeusler
Affiliation:
Department of Obstetrics and Gynecology, Medical University of Graz, Graz, Austria
Babak Khoshnood
Affiliation:
INSERM U953, Hopital Saint Vincent de Paul, Paris, France
Carmel Mullaney
Affiliation:
Department of Public Health, HSE South (South East), Kilkenny, Ireland
Judith Rankin
Affiliation:
Institute of Health and Society, Newcastle University, Newcastle, United Kingdom
David Tucker
Affiliation:
Congenital Anomaly Register and Information Service for Wales, Wales, United Kingdom
*
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: helle.a@ouh.regionsyddanmark.dk
Get access Rights & Permissions [Opens in a new window]

Abstract

Objective

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

Methods

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.

Results

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%.

Conclusion

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.

Keywords

Common atrioventricular canalendocardial cushion defectepidemiology
Type
Original Articles
Information
Cardiology in the Young , Volume 23 , Issue 4 , August 2013 , pp. 560 - 567
Copyright
Copyright © Cambridge University Press 2012 

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

1. Anderson, RH, Baker, EJ, Macartney, FJ, Rigby, ML, Shinebourne, EA, Tynan, M. Pediatric Cardiology. Churchill Livingstone, London, 2002, 939–981.Google Scholar
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: 1599–1604.CrossRefGoogle ScholarPubMed
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: 167–173.CrossRefGoogle ScholarPubMed
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: 649–656.CrossRefGoogle ScholarPubMed
5. Owens, GE, Gomez-Fifer, C, Gelehrter, S, Owens, ST. Outcome for patients with unbalanced atrioventricular septal defects. Pediatr Cardiol 2009; 30: 431–435.CrossRefGoogle ScholarPubMed
6. Torfs, CP, Christianson, RE. Anomalies in Down syndrome individuals in a large population-based registry. Am J Med Genet 1998; 77: 431–438.3.0.CO;2-J>CrossRefGoogle Scholar
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: 593–601.CrossRefGoogle ScholarPubMed
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: 95–101.CrossRefGoogle ScholarPubMed
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: 25–32.CrossRefGoogle ScholarPubMed
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): S51–S100.CrossRefGoogle ScholarPubMed
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): S2–S15.CrossRefGoogle Scholar
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): S44–S50.CrossRefGoogle ScholarPubMed
13. Peeters, H, Devriendt, K. Human laterality disorders. Eur J Med Genet 2006; 49: 349–362.CrossRefGoogle ScholarPubMed
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: 387–400.CrossRefGoogle ScholarPubMed
15. Maclean, K, Dunwoodie, SL. Breaking symmetry: a clinical overview of left-right patterning. Clin Genet 2004; 65: 441–457.CrossRefGoogle ScholarPubMed
16. Calabrò, R, Limongelli, G. Complete atrioventricular canal. Orphanet J Rare Dis 2006; 1: 8.CrossRefGoogle ScholarPubMed
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: 994–1000.CrossRefGoogle ScholarPubMed
18. Machado, MV, Crawford, DC, Anderson, RH, Allan, LD. Atrioventricular septal defect in prenatal life. Br Heart J 1988; 59: 352–355.CrossRefGoogle ScholarPubMed
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.CrossRefGoogle ScholarPubMed
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: 18–26.CrossRefGoogle ScholarPubMed
21. Delisle, MF, Sandor, GG, Tessier, F, Farquharson, DF. Outcome of fetuses diagnosed with atrioventricular septal defect. Obstet Gynecol 1999; 94: 763–767.Google ScholarPubMed
22. Allan, LD. Atrioventricular septal defect in the fetus. Am J Obstet Gynecol 1999; 181: 1250–1253.CrossRefGoogle ScholarPubMed
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: 689–696.CrossRefGoogle ScholarPubMed
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.Google ScholarPubMed
25. Carmi, R, Boughman, JA, Ferencz, C. Endocardial cushion defect: further studies of “isolated” versus “syndromic” occurrence. Am J Med Genet 1992; 43: 569–575.CrossRefGoogle ScholarPubMed
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: 268–273.CrossRefGoogle Scholar
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: 140–146.3.0.CO;2-A>CrossRefGoogle ScholarPubMed
28. Bini, R. Partial atrioventricular canal. Orphanet encyclopedia, March 2003.Google Scholar
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: 1120–1122.CrossRefGoogle ScholarPubMed
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: 916–917.CrossRefGoogle ScholarPubMed
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: 555–564.CrossRefGoogle Scholar
32. Ashok, M, Thangavel, G, Indrani, S, Suresh, S. Atrioventricular septal defect – associated anomalies and aneuploidy in prenatal life. Indian Pediatr 2003; 40: 659–664.Google ScholarPubMed