Presentation of congenital heart disease in infancy: implications for routine examination.
OBJECTIVE
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.
D004314:Down Syndrome / Q000150:complications; D006330:Heart Defects, Congenital / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods*; D012189:Retrospective Studies; D012680:Sensitivity and Specificity