Global birth prevalence of congenital heart defects 1970-2017: updated systematic review and meta-analysis of 260 studies

Abstract

Background: Globally, access to healthcare and diagnostic technologies are known to substantially impact the reported birth prevalence of congenital heart disease (CHD). Previous studies have shown marked heterogeneity between different regions, with a suggestion that CHD prevalence is rising globally, but the degree to which this reflects differences due to environmental or genetic risk factors, as opposed to improved detection, is uncertain. We performed an updated systematic review to address these issues.

Methods: Studies reporting the birth prevalence of CHD between the years 1970-2017 were identified from searches of PubMed, EMBASE, Web of Science and Google Scholar. Data on the prevalence of total CHD and 27 anatomical subtypes of CHD were collected. Data were combined using random-effect models. Subgroup and meta-regression analyses were conducted, focused on geographical regions and levels of national income.

Results: Two hundred and sixty studies met the inclusion criteria, encompassing 130 758 851 live births. The birth prevalence of CHD from 1970-2017 progressively increased to a maximum in the period 2010-17 of 9.410/1000 [95% CI (confidence interval) 8.602-10.253]. This represented a significant increase over the fifteen prior years (P = 0.031). The change in prevalence of mild CHD lesions (ventricular septal defect, atrial septal defect and patent ductus arteriosus) together explained 93.4% of the increased overall prevalence, consistent with a major role of improved postnatal detection of less severe lesions. In contrast the prevalence of lesions grouped together as left ventricular outflow tract obstruction (which includes hypoplastic left heart syndrome) decreased from 0.689/1000 (95% CI 0.607-0.776) in 1995-99, to 0.475/1000 (95% CI 0.392-0.565; P = 0.004) in 2010-17, which would be consistent with improved prenatal detection and consequent termination of pregnancy when these very severe lesions are discovered. There was marked heterogeneity among geographical regions, with Africa reporting the lowest prevalence [2.315/1000 (95% CI 0.429-5.696)] and Asia the highest [9.342/1000 (95% CI 8.072-10.704)].

Conclusions: The reported prevalence of CHD globally continues to increase, with evidence of severe unmet diagnostic need in Africa. The recent prevalence of CHD in Asia for the first time appears higher than in Europe and America, where disease ascertainment is likely to be near-complete, suggesting higher genetic or environmental susceptibility to CHD among Asian people.

Keywords: Congenital heart disease; geographical region; meta-analysis; national income; prevalence; systematic review.

Figure 1.

PRISMA flow diagram for review.

Figure 2.

The number of included studies on the birth prevalence of CHD in five-year bands from 1970 to June 2017. Year-bands are defined according to the publication time of included studies.

Figure 3.

Changes in the birth prevalence of CHD 1970–2017. The thick line is the estimated overall prevalence of CHD, thin lines represent the 95% CI.

Figure 4.

The birth prevalence of CHD subtypes and their changes over time. (A) The prevalence of mild and severe CHD lesions during 1970–2017. Thick lines are the estimated prevalence of CHD lesions, thin lines represent the 95% CI. (B) The birth prevalence of the five most frequent CHD subtypes during 1970–2017. PS, pulmonary stenosis; TOF, tetralogy of fallot.

Figure 5.

The changes in birth prevalence of CHD categories (except septal defects) from 1970 to 2017. RVOTO, right ventricular outflow tract obstruction; LVOTO, left ventricular outflow tract obstruction; AVSD, atrioventricular septal defect; APVR, anomalous pulmonary venous return.

Figure 6.

CHD prevalence in different geographic regions 1970–2017. (A) The prevalence of overall CHD in six geographic regions. (B) The prevalence of mild lesions in six geographic regions. The number of studies for each region was: Africa 4 (69 304 births), Asia 74 (12 975 858 births), Europe 110 (56 272 142 births), North America 58 (59 498 436 births), South America 9 (667 353 births) and Oceania 5 (1 275 758 births). Data for (A) and (B) are presented as Mean ± SE. *, P < 0.05, compared with Africa, #, P < 0.05, compared with Asia.

Figure 7.

CHD prevalence and income levels. (A) The prevalence of CHD in countries of different income levels. (B) The linear correlation between the prevalence of ASD and GNI (per capita). (C) The linear correlation between the prevalence of LVOTO and GNI (per capita).