Congenital heart disease: Epidemiological, genetic and evolutive profil

Introduction: Congenital heart disease is a heterogeneous group of malformations and one of the most common causes of mortality in children.

Aim: The aim of this study was to investigate the clinical, genetic and evolutive characteristics of congenital heart disease.

Methods: A retrospective, descriptive study was carried out between 2020 and 2023 at the pediatrics and neonatology department of Mongi Slim university hospital of Tunis. All children with confirmed congenital heart disease were included.

Results: Forty-five patients were included, representing 5.7‰ of all admissions. The sex ratio was 1.4. A prenatal diagnosis of congenital heart disease was established in 9% of cases. The median age at the time of discovery was 18 days. The initial symptomatology was respiratory distress in 64% of cases. The main reasons for performing a cardiac ultrasound were heart murmur in 38% followed by polymalformative assessment in 27% of cases. Most of the cardiopathies were atrial septal defects (42%) and ventricular septal defects (40%). Cyanotic heart diseases represented 29% of cases, conotruncal ones 13% and ductodependent ones 16%. Congenital heart disease was associated with a genetic anomaly in 53% of patients, including 15 cases of trisomy 21 and four Di-George syndromes. The treatment was mainly medical (38%), associated with surgery in 5 cases. Death occurred in nine patients, representing a mortality rate of 20%.

Conclusion: Efforts still need to be made to improve pre- and post-natal diagnosis and ensure rapid treatment in order to reduce morbidity and mortality in our country.