ArticlesRecurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study
Introduction
An increasing number of patients with major congenital cardiac defects survive to adulthood and parenthood. Data on the frequency of recurrent congenital malformation—both cardiac and non-cardiac—in the offspring of such individuals can therefore provide valuable clues about the aetiology of congenital heart diseases, as well as empirical data for counselling purposes. Many investigators have produced recurrence data in an attempt to clarify this aetiology.1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12 There are several sources of bias in the published research, relating in particular to methods and recruitment, which undermine the validity of the data. In many instances the data are conflicting and of limited application.
In this study, we attempted to provide unbiased recurrence data on major cardiac malformations by drawing together the resources of the UK paediatric cardiology services. The study is prospective in that the cohort was identified from paediatric surgical records and traced through the National Health Service; personal contact ensured maximum recruitment, and clinical examination of offspring made possible the accurate assessment of clinical status.
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Patients and methods
The study began in 1985. Inclusion and exclusion criteria are shown in the panel. A major defect was defined as an abnormality of situs (eg, right isomerism sequence), atrioventricular connection (eg, tricuspid atresia), ventriculoarterial connection (eg, transposition of the great arteries), anomalous pulmonary venous drainage, atrioventricular septal defect, or tetralogy of Fallot. Patients who met the entry criteria, and who underwent palliative or corrective paediatric cardiac surgery in
Cohort characteristics
1094 individuals with surgically modified major structural heart defects were identified from paediatric records in participating centres. This cohort was reduced to 943 patients by exclusion of 108 who died in childhood, 31 who had emigrated, and 12 who were mentally retarded. 62 (6·6%) of the 943 cases could not be traced by available methods. Of the 881 traceable probands, 29 (3·3%) declined to participate; in 125 (14·2%) cases, either the family practitioner or the proband did not respond
Discussion
Nora16 introduced the “multifactorial” model for the aetiology of isolated congenital heart defects (excluding malformations associated with chromosomal defects, syndromes, and known teratogenic exposure as well as Mendelian traits) in which several genetic loci interact together, with or without environmental factors. Persistent patency of the arterial duct in human beings supports this model: well-recognised environmental insults are known to cause persistent patency of the arterial duct
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