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

Arch Dis Child Fetal Neonatal Ed. 1999 Jan;80(1):F49-53. doi: 10.1136/fn.80.1.f49.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Down Syndrome / complications
  • Heart Defects, Congenital / complications
  • Heart Defects, Congenital / diagnosis*
  • Humans
  • Infant
  • Infant, Newborn
  • Neonatal Screening / methods*
  • Retrospective Studies
  • Sensitivity and Specificity