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Recognising heart disease in children with Down syndrome
  1. J Dennis1,
  2. N Archer2,
  3. J Ellis3,
  4. L Marder4
  1. 1Down's Syndrome Medical Interest Group, Oxford, UK
  2. 2Paediatric Cardiology Department, Oxford Radcliffe Hospitals NHS Trust, Children's Hospital, John Radcliffe Hospital, Oxford, UK
  3. 3City and Hackney Teaching Primary Care Trust, St Leonard's Primary Care Centre, London, UK
  4. 4Nottingham University Hospitals NHS Trust, Children's Centre, City Hospital Campus, Nottingham, UK
  1. Correspondence to Dr Jennifer Dennis, Down's Syndrome Medical Interest Group, 8 Polstead Road, Oxford OX2 6TN, UK; jendennis{at}

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There is an increased incidence of congenital heart disease among children with Down syndrome. The most common lesion is complete atrioventricular septal defect (cAVSD). Failure to recognise this defect early in life can have very serious consequences. Hence, in this paper, we have chosen to focus more on this lesion than on others. Children with cAVSD and already irreversible pulmonary vascular disease continue to present in paediatric cardiology clinics too late for corrective surgery to be carried out. The child's future health, and indeed survival, may be severely compromised by late diagnosis. This suggests that the importance of diagnosis in the first few weeks of life is not universally recognised.

The early recognition of cAVSD and other major shunt lesions is of paramount importance, but despite this, we explain that urgent indiscriminate referral to paediatric cardiologists of all newborns with the syndrome is not necessary. We will outline surveillance principles that should allow child health teams to develop effective screening protocols appropriate to local service provision and level of clinical experience and specialist interest available.


In a population not affected by prenatal diagnosis, between 40% and 60% of babies born with Down syndrome have congenital heart defects. Of these, 30%–40% are cAVSDs.1,,3 Conversely, approximately 80% of all cAVSDs occur in children with Down syndrome.4,,6

With regard to the prevalence of other cardiac anomalies, we have not found any contemporary studies that describe, in samples of reasonable size, the frequency and range of lesions identified by echocardiography. There are several earlier studies from which we have chosen, as an illustration, two population-based studies.1 2 (table 1).

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Table 1

Cardiac lesions in children with Down syndrome

In these two studies, because very few lesions were identified by echocardiography, findings from clinical examination, …

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  • Competing interests None.

  • Provenance and peer review Commissioned; externally peer reviewed.