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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
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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 

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