Birth prevalence of congenital heart disease worldwide
Open accessAbstract
Congenital heart disease (CHD) accounts for nearly one-third of all major congenital anomalies. CHD birth prevalence worldwide and over time is suggested to vary; however, a complete overview is missing. This systematic review included 114 papers, comprising a total study population of 24,091,867 live births with CHD identified in 164,396 individuals. Birth prevalence of total CHD and the 8 most common subtypes were pooled in 5-year time periods since 1930 and in continent and income groups since 1970 using the inverse variance method. Reported total CHD birth prevalence increased substantially over time, from 0.6 per 1,000 live births (95% confidence interval [CI]: 0.4 to 0.8) in 1930 to 1934 to 9.1 per 1,000 live births (95% CI: 9.0 to 9.2) after 1995. Over the last 15 years, stabilization occurred, corresponding to 1.35 million newborns with CHD every year. Significant geographical differences were found. Asia reported the highest CHD birth prevalence, with 9.3 per 1,000 live births (95% CI: 8.9 to 9.7), with relatively more pulmonary outflow obstructions and fewer left ventricular outflow tract obstructions. Reported total CHD birth prevalence in Europe was significantly higher than in North America (8.2 per 1,000 live births [95% CI: 8.1 to 8.3] vs. 6.9 per 1,000 live births [95% CI: 6.7 to 7.1]; p < 0.001). Access to health care is still limited in many parts of the world, as are diagnostic facilities, probably accounting for differences in reported birth prevalence between high- and low-income countries. Observed differences may also be of genetic, environmental, socioeconomical, or ethnic origin, and there needs to be further investigation to tailor the management of this global health problem.
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Tetralogy of Fallot has an incidence of 0.28-0.34 per 1000 live births.
“Tetralogy of Fallot (ToF) is the most frequent cause of cyanotic heart disease, accounting for 3%-5% of all congenital heart diseases (CHDs), and has an incidence of 0.28-0.34 per 1000 live births.1,2”
From Tetralogy of Fallot in Low- and Middle-Income Countries (2024) · cites this paper as [2]
The Search results report a worldwide tetralogy of Fallot birth prevalence of 0.34 per 1,000 live births (95% CI: 0.31–0.37). That supports the claim’s upper value, but the paper does not report 0.28–0.34 as the range for tetralogy of Fallot. (LLM, conf=0.88)
Experimental — accuracy not yet measuredTetralogy of Fallot is the most frequent cause of cyanotic heart disease, accounting for 3%-5% of all congenital heart diseases.
“Tetralogy of Fallot (ToF) is the most frequent cause of cyanotic heart disease, accounting for 3%-5% of all congenital heart diseases (CHDs), and has an incidence of 0.28-0.34 per 1000 live births.1,2”
From Tetralogy of Fallot in Low- and Middle-Income Countries (2024) · cites this paper as [2]
The Search results report a worldwide tetralogy of Fallot birth prevalence of 0.34 per 1,000 live births, and Figure 5 shows it accounts for about 5% of congenital heart disease. The paper does not identify it as the most frequent cause of cyanotic heart disease or state the claimed 3%–5% range. Page numbers are unavailable for these passages in our copy. (LLM, conf=0.84)
Experimental — accuracy not yet measuredThe estimated frequency of CHD in 15q11.2 deletion carriers is 4.5%-1.4% based on the prevalence of CHD of 9 per 1000 live births.
“This suggests that the frequency of CHD in deletion carriers is 4.5%–1.4% based on the prevalence of CHD of 9 per 1000 live births (table 4).40”
From Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice (2019) · cites this paper as [40]
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- Authors
- van der Linde, D., Konings, E. E. M., Slager, M. A., Witsenburg, M., Helbing, W. A., Takkenberg, J. J. M., & Roos-Hesselink, J. W.
- Affiliations
- Erasmus MC (NL)
- Venue
- Journal of the American College of Cardiology
- Publisher
- Elsevier BV
- Published
- 2011-11
- Volume
- 58
- Issue
- 21
- Pages
- 2241-2247
- ISSN
- 0735-1097 (ISSN-L)
- OpenAlex
- W44429629
- Cited by
- 3,452
- References
- 21
- Citations by year
- 2026: 323 · 2025: 330 · 2024: 354 · 2023: 302 · 2022: 289 · 2021: 341 · 2020: 304 · 2019: 256 · 2018: 240 · 2017: 200 · 2016: 173 · 2015: 126 · 2014: 94 · 2013: 78 · 2012: 37
- FWCI
- 50.61
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Journal of the American College of Cardiology (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Topics
- Health Sciences › Medicine › Epidemiology › Congenital Heart Disease Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Congenital heart defects research
- Health Sciences › Medicine › Surgery › Congenital Anomalies and Fetal Surgery
- Keywords
- congenital heart disease, birth prevalence, temporal trends, regional variation, pulmonary outflow obstruction, left ventricular outflow tract obstruction, health care access, low-income countries, congenital malformations
- MeSH terms
- Female, Heart Defects, Congenital, Humans, Infant, Newborn, Global Health, Prevalence, Confidence Intervals
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 ›
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