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Presentation of congenital heart disease in infancy: implications for routine examination
  1. Christopher Wrena,
  2. Sam Richmondb,
  3. Liam Donaldsonc
  1. aDepartment of Paediatric Cardiology Freeman Hospital, Newcastle upon Tyne, bNeonatal Unit, Sunderland Royal Hospital, cDepartment of Epidemiology and Public Health University of Newcastle upon Tyne
  1. Dr Christopher Wren Department of Paediatric Cardiology, Freeman Hospital, Newcastle upon Tyne NE7 7DN.

Abstract

AIM To investigate the performance of routine neonatal and 6 week examinations for detecting congenital heart disease.

METHODS A retrospective review of findings on clinical examination was conducted of a cohort of live born infants with congenital heart disease in one health region in 1987–94

RESULTS Of 1590 babies with congenital heart disease, 523 (33%) presented before neonatal examination because of symptoms or non-cardiac abnormalities. 1061 underwent routine neonatal examination which was abnormal in 476 (45%), but only 170 were referred directly for diagnosis. Of 876 discharged with no diagnosis, 306 presented or died undiagnosed before 6 weeks. At 6 weeks 252 of 569 babies underwent a second routine examination which was abnormal in 164 (65%).

CONCLUSIONS Routine neonatal examination fails to detect more than half of babies with heart disease; examination at 6 weeks misses one third. A normal examination does not exclude heart disease. Babies with murmurs at neonatal or 6 week examinations should be referred for early paediatric cardiological evaluation which will result either in a definitive diagnosis of congenital heart disease or in authoritative reassurance of normal cardiac anatomy and function.

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More than half of babies with undiagnosed congenital heart disease which comes to light in infancy are missed by routine neonatal examination and more than one third by the 6 week examination
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Parents, community midwives, health visitors, general practitioners and paediatricians should recognise that a normal neonatal examination does not guarantee that the baby is normal and certainly does not exclude life threatening cardiovascular malformation
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Follow up of babies with murmurs without arranging for an early definitive (echocardiographic) diagnosis is of little value and can be risky
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Babies with murmurs at neonatal or 6 week examinations should be referred for early paediatric cardiological evaluation. This will result either in a definitive diagnosis of congenital heart disease or in authoritative reassurance of normal cardiac anatomy and function
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Babies with Down’s syndrome have a high prevalence of congenital heart disease and all should be referred for early echocardiographic examination.

  • congenital heart disease
  • cardiac murmur
  • screening.
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