Presentation of congenital heart disease in infancy: implications for routine examination

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. Key points • 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 • 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 • Follow up of babies with murmurs without arranging for an early definitive (echocardiographic) diagnosis is of little value and can be risky • 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 • Babies with Down’s syndrome have a high prevalence of congenital heart disease and all should be referred for early echocardiographic examination.