Congenital heart defects (CHDs) are the most common congenital malformations, with a global incidence of 8 to 12 cases per 1000 births. They manifest in various forms and have diverse aetiologies [1][2]. The course of a CHD depends on the type of heart defect, its severity and associated extracardiac abnormalities [3]. CHDs are often associated with major extracardiac congenital malformations (ECCMs), chromosomal abnormalities and genetic syndromes [4]. Previous studies have shown that ECCMs are present in 20% to 60% of live newborns with congenital heart disease [5]. ECCMs associated with CHD have a significant impact on their clinical course. Indeed, in the United States, R. D. Greenwood et al., in their cohort, reported a prevalence of 23% of CHD in children with congenital diaphragmatic hernia, with a mortality rate of 73% in this group compared with 27% in those without CHD [6]. In Brazil, acute respiratory infections accounted for nearly 19% of deaths among children under one year of age in 2008, and were the second most common cause of death in this age group [5]. In Africa, A. Mourad, in his doctoral thesis in medicine in Algeria, found CHD in 11% of children with cleft lip and palate [7]. Ekure et al., meanwhile, in their study of children with ECCMs in Lagos, reported the presence of CHD in 72.3% of patients [8]. In Côte d’Ivoire, although several studies have been carried out on CHD, the association between CHD and ECCMs has not been clearly defined. Given the limited number of studies focusing on the sub-Saharan African experience, the aim of our study is to provide a descriptive overview of the association between CHD and ECCMs in paediatric surgery, with the objective of analysing the CHD associated with ECCMs.

This was a prospective, analytical cross-sectional study conducted over a six-month period (from April to September 2024). The study was carried out in the paediatric cardiology department of the Abidjan Cardiology Institute (ICA). Patients were referred by the paediatric surgery departments of the Treichville and Cocody University Teaching Hospitals (CHU). These patients came in for a pre-operative assessment. We therefore proceeded to recruit patients sequentially in accordance with the questionnaire. We therefore recruited patients in stages in accordance with the questionnaire. This study included all children aged 0 to 15 years who came for an echocardiogram: patients with ECCMs and CHD diagnosed by echocardiography by a paediatric cardiologist. Patients with isolated CHD or isolated ECCMs were excluded. The variables included in our study are age, sex, parental age, consanguinity, the mother’s gestation and parity, miscarriage, antenatal assessment, high blood pressure, diabetes, alcohol and tobacco use among parents, the type of ECCMs, the type of CHD, and trisomic features. We highlighted the mean age, the frequency of sociodemographic data for children and parents (sex, age, occupation, medical history, consanguinity), and the frequencies associated with the combination of ECCMs and CHD. The data were entered into EpiInfo version 7.2 for Windows and analysed. For the statistical analysis, odds ratios (OR) and confidence intervals were calculated for the associated factors. Associations with p < 0.05 were considered statistically significant. The parents of the patients included in this study were all volunteers. They completed the questionnaire after giving informed consent. They were informed of the study protocol, which had been approved by the Scientific Committee of the Abidjan Institute of Cardiology.

At the conclusion of our study (Figure 1), we identified 79 children with ECCMs (14.96%) out of a total of 528 patients who attended the clinic. The hospital admission rate for cleft-related conditions in our population was 5.30% (n = 28), whilst that for isolated CLP was 9.66% (n = 51). Of the 79 patients, cleft lip and palate (CLP) was the most common congenital malformation, accounting for 44.31% (35 patients), followed by omphalocele at 16.46% (13 patients). Umbilical hernia and hydrocephalus were found in 6.34% and 7.59% of cases, respectively (Table 1). In our cohort of 28 patients, the most frequently recorded congenital heart defects were patent ductus arteriosus (PDA), atrial septal defect (ASD) and double-outlet right ventricle (DORV), in proportions of 21.43% (n = 06), 17.86% (n = 05) and 14.28% (n = 4). We found an equal number of cases of pulmonary stenosis (PS) and atrioventricular septal defect (AVSD), namely 10.72% (n = 3). Only two cases of ventricular septal defect (VSD) were recorded, representing 7.14% (Table 2). The highest incidence of CHD was observed in children with FLP, at 32.15% (nine patients: three VDDI; two PDA; two AVSD; 1 ASD and 1 transposition of the great arteries (TGA)), followed by those with omphalocele, accounting for 21.44% (6 patients: 2 PDA; 1 VSD; 1 SP; 1 common arterial trunk (TAC) and 1 cardiac mass) (Table 3). Multiple pregnancies, multiparity and miscarriage were associated with the occurrence of CC and ECCMs (Table 4).

Table 1. Summary of extracardiac congenital malformations.

Table 2. Summary of congenital heart defects identified.

Figure 1. Flowchart.

Table 3. Breakdown of CHD by ECCMs.

CHD: Congenital Heart Disease, ECCMs: Extracardiac Congenital Malformations, PDA: Patant Ductus Arteriosus, DORV: Double Outlet Right Ventricle, AVSD: Atrioventricular Septal Defect, VSD: Ventricular Septal Defect, ASD: Atrial Septal Defect, PS: Pulmonary Stenosis, CM: Cardiac Mass, TOF: Tetralogy Of Fallot, TAC: Troncus Arteriosus, SA: Single Atrial, TGVX: Transposition Greats Vessels.

Table 4. Analytical study.

CHD: Congenital Heart Disease, ECCMs: Extracardiac Congenital Malformations.

Our study has a number of limitations that must be taken into account to ensure the results are interpreted correctly. A distinctive feature of our study is that it was the first of its kind to be conducted in sub-Saharan Africa, and specifically in the paediatric cardiology department of the ICA in Côte d’Ivoire.

Onsampling

The main limitation regarding patient recruitment was that patients were drawn from only one (Treichville University Hospital) of the three paediatric surgery departments. Furthermore, given the low to moderate socioeconomic status of the majority of our patients, those living far from Abidjan or the ICA were unable to travel there to take part in the survey. As a result, our sample was limited to 79 patients.

Ondataquality

Data were collected using a questionnaire and by analysing the children’s birth records. It should also be noted that some patient records were incomplete due to the unavailability of the birth record. Some records were compiled solely on the basis of interviews with the parents and are therefore likely to be subject to various forms of bias.

Screeningforchromosomalandgeneticabnormalities

The lack of screening for chromosomal and genetic abnormalities is due to the fact that low-cost karyotype testing is not available in our country. Such screening would have provided a further explanation for the presence of certain congenital heart defects in our study. In the study by Tennstedt et al. [22], chromosomal abnormalities were observed in cases of VSD (62%), tetralogy of Fallot (50%), coarctation of the aorta (42.9%) and ASD (42%). Egbe et al. [11] found that ASD was most commonly observed in individuals with a genetic syndrome.

The aim of this study was to analyse CHDs associated with ECCMs. Our results showed that Cleft lip and palate was the most common ECCMs associated with CHDs. Multiple pregnancies, multiparity and previous miscarriage have been linked to the occurrence of CHDs and ECCMs associations. These findings may be useful in the management of congenital anomalies. However, certain limitations, notably the sample size and the single-centre nature of the study, must be taken into account. Larger-scale prospective studies investigating chromosomal abnormalities are required to confirm these findings.

N’goran Yves N’da Kouakou: Drafting and revising the manuscript. Traoré Fatoumata, wife of Diaby: Drafting and revising the manuscript. Kouamé Yves Wilfried: Analysis and literature review. Akoun Oboe Ange-Marie Christopher: Analysis and literature review. Djibom Diana Viwassi: Drafting and revising the manuscript. Avoh Ami Echua Manzan: Analysis and literature review, drafting and revising the manuscript. Tano-Akoto Micesse: Clinical management and diagnosis. Camara Zenabou: Clinical management and diagnosis. Eric Koutoua Katché: Clinical management and diagnosis. Yoboua Aimé Kirioua-Kamenan: Clinical management and diagnosis. Kramoh Kouadio Euloge: Scientific supervision of the study.