Presentation of congenital heart disease in infancy: implications for routine examination
Open accessAbstract
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. Key points • More than half of babies with undiagnosed congenital heart disease which comes to light in infancy are missed by routine neonatal examination and more than one third by the 6 week examination • Parents, community midwives, health visitors, general practitioners and paediatricians should recognise that a normal neonatal examination does not guarantee that the baby is normal and certainly does not exclude life threatening cardiovascular malformation • Follow up of babies with murmurs without arranging for an early definitive (echocardiographic) diagnosis is of little value and can be risky • Babies with murmurs at neonatal or 6 week examinations should be referred for early paediatric cardiological evaluation. This will result either in a definitive diagnosis of congenital heart disease or in authoritative reassurance of normal cardiac anatomy and function • Babies with Down’s syndrome have a high prevalence of congenital heart disease and all should be referred for early echocardiographic examination.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The CC rates of cardiac anomalies are slightly higher than the rate reported among all births.
“The incidence of cardiac anomalies in the letrozole group was slightly lower than the rate of congenital cardiac anomalies reported among all births (0.4 -1.2%) (13)(14)(15)(16), and the CC rates are slightly higher.”
From Congenital malformations among 911 newborns conceived after infertility treatment with letrozole or clomiphene citrate (2006) · cites this paper as [14]
The incidence of cardiac anomalies in the letrozole group was slightly lower than the rate of congenital cardiac anomalies reported among all births (0.4-1.2%).
“The incidence of cardiac anomalies in the letrozole group was slightly lower than the rate of congenital cardiac anomalies reported among all births (0.4 -1.2%) (13)(14)(15)(16), and the CC rates are slightly higher.”
From Congenital malformations among 911 newborns conceived after infertility treatment with letrozole or clomiphene citrate (2006) · cites this paper as [14]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Congenital Heart Disease in 56,109 Births Incidence and Natural History
Mitchell, S. C., Korones, S. B., & Berendes, H. (1971) · Circulation · doi:10.1161/01.cir.43.3.323 · Cited by 1,344 · see citing works
CONGENITAL HEART DISEASE: PREVALENCE AT LIVEBIRTH
Ferencz, C., Rubin, J. D., McCarter, R., Brenner, J. I., Neill, C. A., Perry, L. W., Hepner, S. I., & Downing, J. W. (1985) · American Journal of Epidemiology · doi:10.1093/oxfordjournals.aje.a113979 · Cited by 1,025 · see citing works
Hall, D. M. (1992) · Archives of Disease in Childhood · doi:10.1136/adc.67.5.665-b · Cited by 334 · see citing works
Death in infancy from unrecognised congenital heart disease.
Abu-Harb, M., Hey, E. N., & Wren, C. (1994) · Archives of Disease in Childhood · doi:10.1136/adc.71.1.3 · Cited by 277 · see citing works
Self-citationHigh prevalence of muscular ventricular septal defect in neonates
Roguin, N., Du, Z., Barak, M., Nasser, N., Herschkowitz, S., & Milgram, E. A. (1995) · Journal of the American College of Cardiology · doi:10.1016/0735-1097(95)00358-4 · Cited by 225 · see citing works
Prevalence and clinical significance of cardiac murmurs in neonates
Ainsworth, S. B., Wyllie, J. P., & Wren, C. (1999) · Archives of Disease in Childhood Fetal & Neonatal · doi:10.1136/fn.80.1.f43 · Cited by 215 · see citing works
Self-citationCONGENITAL HEART DISEASE: INCIDENCE IN THE FIRST YEAR OF LIFE
Grabitz, R. G., Joffres, M. R., & Collins-Nakai, R. L. (1988) · American Journal of Epidemiology · doi:10.1093/oxfordjournals.aje.a114978 · Cited by 128 · see citing works
Presentation of obstructive left heart malformations in infancy.
Abu-Harb, M., Wyllie, J. P., Hey, E. N., et al. (1994) · Archives of Disease in Childhood Fetal & Neonatal · doi:10.1136/fn.71.3.f179 · Cited by 116 · see citing works
Perinatal mortality: a continuing collaborative regional survey.
British Medical Journal Publishing Group (1984) · BMJ · doi:10.1136/bmj.288.6432.1717 · Cited by 105 · see citing works
Hiraishi, S., Agata, Y., Nowatari, M., et al. (1992) · The Journal of Pediatrics · doi:10.1016/s0022-3476(05)80906-0 · Cited by 90 · see citing works
Health for all children : report of the Third Joint Working Party on Child Health Surveillance
Hall, D. M. B. (1996) · DigitalGeorgetown (Georgetown University Library) · Cited by 80 · see citing works
The incidence of congenital heart defects in the first year of life
KIDD, S. A., Lancaster, P. A. L., & McCredie, R. M. (1993) · Journal of Paediatrics and Child Health · doi:10.1111/j.1440-1754.1993.tb00531.x · Cited by 65 · see citing works
Symptomatic heart disease in infants: Comparison of three studies performed during 1969?1987
Moller, J. H., Moodie, D. S., Blees, M., et al. (1995) · Pediatric Cardiology · doi:10.1007/bf00795710 · Cited by 47 · see citing works
Epidemiology of congenital heart disease in Merseyside—1979 to 1988
Jackson, M., Walsh, K. P., Peart, I., et al. (1996) · Cardiology in the Young · doi:10.1017/s1047951100003899 · Cited by 42 · see citing works
Assessment and management of congenital heart disease in the newborn by the district paediatrician.
Silove, E. D. (1994) · Archives of Disease in Childhood Fetal & Neonatal · doi:10.1136/fn.70.1.f71 · Cited by 35 · see citing works
Examination for cardiac malformations at six weeks of age
Gregory, J., Emslie, A. G., Wyllie, J. P., et al. (1999) · Archives of Disease in Childhood Fetal & Neonatal · doi:10.1136/fn.80.1.f46 · Cited by 27 · see citing works
Strategies for antenatal detection of Down’s syndrome
Wyllie, J. P., Madar, R. J., Wright, M., et al. (1997) · Archives of Disease in Childhood Fetal & Neonatal · doi:10.1136/fn.76.1.f26 · Cited by 6 · see citing works
Flagged first, then by citations
Research works printed but not linked: 2
- Northern Regional Survey Screening Group. Fetal abnormality, an audit of its recognition and management. Arch Dis Child 1992;67:F770-4.
- Abu-Harb M, Wyllie J, Hey E, Richmond S, Wren C. Pres- entation of obstructive left heart malformation in infancy. Arch Dis Child 1994;76:F179-83.
Cited by
Sorted by citations
Tulandi, T., Martin, J., Al-Fadhli, R., Kabli, N., Forman, R., Hitkari, J., Librach, C., Greenblatt, E., & Casper, R. F. (2006) · Fertility and Sterility · doi:10.1016/j.fertnstert.2006.03.014 · Cited by 370 · see citing works
Pulse oximetry as a screening tool for detecting major congenital heart defects in Indian newborns
Saxena, A., Mehta, A., Ramakrishnan, S., Sharma, M., Salhan, S., Kalaivani, M., & Juneja, R. (2015) · Archives of Disease in Childhood - Fetal and Neonatal Edition · doi:10.1136/archdischild-2014-307485 · Cited by 34 · see citing works
Samson, G. R., & Kumar, S. R. (2004) · Cardiology in the Young · doi:10.1017/s104795110400602x · Cited by 26 · see citing works
- Authors
- Wren, C., Richmond, S., & Donaldson, L.
- Affiliations
- Freeman Hospital (GB)
- Corresponding author
- Wren, Christopher
- Venue
- Archives of Disease in Childhood - Fetal and Neonatal Edition
- Publisher
- BMJ
- Published
- 1999-01-01
- Volume
- 80
- Issue
- 1
- Pages
- F49-F53
- ISSN
- 1359-2998 (ISSN-L)
- 1468-2052
- PMC
- PMC1720871
- OpenAlex
- W2125867097
- Cited by
- 303
- References
- 17
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 8 · 2023: 13 · 2022: 6 · 2021: 14 · 2020: 10 · 2019: 14 · 2018: 18 · 2017: 10 · 2016: 15 · 2015: 11 · 2014: 17 · 2013: 9 · 2012: 19
- FWCI
- 5.73
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Archives of Disease in Childhood Fetal & Neonatal (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Newcastle University ePrints (Newcastle Univesity)
- Topics
- Health Sciences › Medicine › Epidemiology › Congenital Heart Disease Studies
- Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Cardiovascular Conditions and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Congenital heart defects research
- Keywords
- congenital heart disease, neonatal assessment, infant examination, missed diagnosis, heart murmurs, Down syndrome, echocardiography, early diagnosis
- MeSH terms
- Down Syndrome, Heart Defects, Congenital, Humans, Infant, Infant, Newborn, Retrospective Studies, Sensitivity and Specificity, Neonatal Screening
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
