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Presentation of obstructive left heart malformations in infancy
1Department of Paediatric Cardiology, Freeman Hospital, Newcastle upon Tyne.
Insights
Newborn and 6-week screenings for critical congenital heart disease are ineffective. Many infants with serious heart conditions like hypoplastic left heart syndrome are missed, leading to delayed diagnosis and poor outcomes.
Area of Science:
- Pediatric Cardiology
- Neonatal Screening
- Congenital Heart Disease
Background:
- Acutely life-threatening congenital heart disease (CHD) presents significant diagnostic challenges in infancy.
- Early detection is crucial for improving outcomes in infants with obstructive left heart malformations.
Purpose of the Study:
- To evaluate the effectiveness of neonatal and 6-week postnatal screening examinations for identifying critical CHD.
- To assess the performance of these screening protocols in a real-world setting.
Main Methods:
- Retrospective analysis of 120 infants with obstructive left heart malformations (hypoplastic left heart syndrome, interrupted aortic arch, coarctation of the aorta, aortic valve stenosis) from 1987-1991.
- Review of neonatal and 6-week examination findings, referral patterns, and clinical outcomes.
Main Results:
- Only 34 out of 120 infants had an abnormal neonatal examination, with 8 referred. 51 infants developed heart failure before 6 weeks, and 7 died undiagnosed.
- Of 36 infants without a diagnosis by 6 weeks, 17 had abnormal second examinations. Two died undiagnosed after 6 weeks, and 18 presented later up to 11 months.
Conclusions:
- Neonatal and 6-week examinations demonstrate poor performance as screening tests for critical congenital heart disease.
- A normal neonatal examination does not rule out the presence of life-threatening congenital heart disease in infants.
Abstract:
This study documents the presentation of acutely life threatening congenital heart disease in infancy in order to assess the performance of screening examinations soon after birth and at 6 weeks of age. All cases of obstructive left heart malformations presenting in infancy in one health region from 1987-91 were analysed retrospectively. Altogether, 120 infants presented with either hypoplastic left heart syndrome, interruption of the aortic arch, coarctation of the aorta, or aortic valve stenosis. Twelve became symptomatic or died within 24 hours. Thirty four had an abnormal neonatal examination, eight of whom were referred. Six more became symptomatic before discharge. Ninety four babies went home, 51 developed heart failure before 6 weeks, and another seven died without diagnosis. Twenty five of 36 (69%) reaching 6 weeks without diagnosis had a second examination which was abnormal in 17. Two babies died undiagnosed after 6 weeks and the other 18 presented at up to 11 months of age. The neonatal and 6 week examinations perform poorly as screening tests for congenital heart disease. A normal neonatal examination does not exclude life threatening congenital heart disease.