In Brazil, congenital heart diseases (CHD) is a significant public health concern, being for the primary cause of deaths in children up to the age of five years. However, the real dimension of CHD within the Brazilian population, especially in the north region, remains inadequately understood, due to a lack of comprehensive, complete and robust data reported in the Sistema de Informações Sobre Nascidos Vivos (SINASC).

We aimed to describe and characterize the frequency and the diverse clinical phenotypes of the CHD diagnosed at Fundação Hospital do Coração Francisca Mendes (FHCFM).

A cross-sectional model study was performed in 110 newborns with CHD diagnosed between Mar/2022 to Apr/2023. Clinical and demographic data were obtained through interviews and medical records. The collected data were compiled and organized in an Excel spreadsheet and submitted to statistical analysis SPSS vs23 software, those with p < 0.05 were considered statistically significant.

The study group comprised 57 (51.8) males and 53 (48.2) females, with a mean age in months totaling 4.75 ± 3.48. It was found that 9 (8.2) had low birth weight (1.8 ± 0.53 kg) with no significant difference between genders. The study group comprised 57 (51.8%) males and 53 (48.2%) females, with a mean age in months totaling 4.75 ± 3.48, with 9 (8.2%) had low birth weight (1.8 ± 0.53 kg). Most diagnosed CHD were of the acyanotic type with 81 (73.6%) and 19 (17.3%) cases had isolated CHD: 7 (36.8%) ductus arteriosus, 5 (26.3%) tetralogy of Fallot, 4 (21.1%) ventricular septal defect, 2 (10.5%) pulmonary stenosis and 1 (5.3%) atrial septal defect. Rare conditions with serious medical were found in < 1%; aortic stenosis (1); truncus arteriosus (1); unicuspid aortic valve (1); interrupted aortic arch (1); right atrial isomerism (1); anomalous origin of the right pulmonary artery (1). Approximately 80% of the newborns presented with complex CHD, with 35.2% having three concurrent CHD conditions and 18.7% having four or more. The presence of these malformations represented risk of OD:1.57 to multiple surgical interventions (p = 0.046).

The epidemiologic current indicators are not accurate enough to determine the exact incidence of CHD, which is a common issue in Latin America. Our findings are similar with existing literature, showing a similar distribution of ASD, VSD, PDA, and TOF. Unfortunately, the SINASC data lacks sufficient information, leading to lower frequency notifications and higher mortality rates of CHD. This highlights the need for new strategies to improve case detection, enabling better treatment and healthcare vigilance.

Were found and characterized 23 CHD phenotypes, with a higher frequency of complex CHD, being observed an association with ductus arteriosus and atrial septal defect, with no difference between genders. The presence of rare CHD (< 1%) represented a 1.57 times risk of multiple surgical interventions and longer hospital stay.