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Presentation of congenital heart disease in infancy: implications for routine examination
C Wren1, S Richmond, L Donaldson
1Department of Paediatric Cardiology, Freeman Hospital, Newcastle upon Tyne.
Insights
Routine neonatal and 6-week examinations miss many cases of congenital heart disease. A normal exam does not rule out heart conditions, necessitating further pediatric cardiology evaluation for murmurs.
Area of Science:
- Pediatrics
- Cardiology
- Neonatal Care
Background:
- Congenital heart disease (CHD) is a significant concern in newborns.
- Early detection of CHD is crucial for timely intervention and improved outcomes.
Purpose of the Study:
- To evaluate the effectiveness of routine neonatal and 6-week examinations in identifying congenital heart disease.
- To assess the diagnostic yield of these routine screenings.
Main Methods:
- Retrospective review of clinical examination findings.
- Analysis of a cohort of infants diagnosed with congenital heart disease.
Main Results:
- Over a third of infants with CHD presented with symptoms before the neonatal exam.
- Neonatal and 6-week exams had limited sensitivity in detecting CHD, with significant numbers missed or referred late.
- A normal examination did not exclude the presence of heart disease.
Conclusions:
- Routine neonatal and 6-week examinations are insufficient for detecting all cases of congenital heart disease.
- Referral for pediatric cardiology evaluation is recommended for infants with murmurs at any stage to ensure accurate diagnosis or reassurance.
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.