Except for projections from the Global Burden of Disease (GBD) study, congenital heart disease (CHD) burden remains undetermined in Latin America and Caribbean (LAC), especially for complex types such as functionally univentricular hearts (FUH) responsible for higher disease morbidity and mortality.

To describe CHD prevalence, characteristics and related infant mortality in French Guiana, a LAC territory.

Population-based registry analysis of all fetal and live birth (LB) CHD cases from January 2012 to December 2016.

Overall, 231 CHD were diagnosed, among which 56 fetal diagnoses and 215 resulting LB. Among all CHD (n=231), there were 18.6% of chromosomal or genetic anomalies, and 6.5% of termination of pregnancy for fetal anomaly. Total and LB CHD prevalence were respectively 68.4 [95% CI: 67.9–68.8] and 65.2 [95% CI: 64.7–65.7] per 10,000, similar to GBD projections for TLA. The total infant mortality in the study sample was 9.4/10,000 LB [95% CI: 9.1–9.7]. Children with FUH presented the highest mortality rates. When compared to mainland France, total FUH prevalence for French Guiana was significantly higher (P=0.03), as were LB FUH prevalence and related infant mortality respectively two to three-fold higher (P<0.01). However, no significant difference was observed for FUH prevalence when compared to GBD projections for TLA. FUH infant mortality could not be contrasted due to the lack of GBD data.

This first population-based study ever performed in this part of the world suggests a distinct profile for CHD in the LAC region, with elevated prevalence and mortality rates linked to FUH. Another potential determinant of the excess mortality risk might be the frequent presence of chromosomal or genetic anomalies. This constitutes a stepping-stone towards better understanding CHD burden and underlying specificities while providing future keys towards reducing infant mortality in French Guiana and others surrounding countries.