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

Lookup NU author(s): Dr Christopher Wren, Dr Sam Richmond, Professor Liam Donaldson


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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.

Publication metadata

Author(s): Wren C, Richmond S, Donaldson L

Publication type: Article

Publication status: Published

Journal: Archives of Disease in Childhood Fetal & Neonatal Edition

Year: 1999

Volume: 80

Issue: 1

Pages: F49-F53

Print publication date: 01/01/1999

ISSN (print): 1359-2998

ISSN (electronic):

Publisher: BMJ Group