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Congenital heart disease: Epidemiological, genetic and evolutive profil
Emna Marmech1, Oumaima Barkallah1, Ines Selmi1
1Department of Pediatrics and Neonatology, Mongi Slim Hospital, La Marsa, Tunis, Tunisia. University of Tunis el Manar Faculty of Medicine of Tunis.
Insights
Congenital heart disease (CHD) in children presents diverse clinical and genetic factors. Early diagnosis and prompt treatment are crucial for reducing high mortality rates in affected pediatric populations.
Area of Science:
- Pediatric Cardiology
- Clinical Genetics
- Neonatology
Background:
- Congenital heart disease (CHD) is a significant cause of mortality in children, characterized by diverse malformations.
- Understanding the clinical, genetic, and evolutionary aspects of CHD is essential for improving pediatric outcomes.
Purpose of the Study:
- To investigate the clinical, genetic, and evolutionary characteristics of congenital heart disease in a pediatric cohort.
- To identify key diagnostic challenges and treatment patterns for CHD.
Main Methods:
- A retrospective descriptive study was conducted from 2020 to 2023.
- Included were all pediatric and neonatal patients with confirmed congenital heart disease at a university hospital.
- Data collected included clinical presentation, diagnostic methods, genetic associations, treatment, and outcomes.
Main Results:
- Forty-five pediatric patients were included, with atrial septal defects (42%) and ventricular septal defects (40%) being most common.
- A significant association was found between CHD and genetic anomalies (53%), including trisomy 21 and Di-George syndrome.
- The study reported a 20% mortality rate, with respiratory distress being the primary initial symptom.
Conclusions:
- Improving pre- and post-natal diagnosis of CHD is critical.
- Rapid and appropriate treatment is necessary to reduce morbidity and mortality in children with congenital heart disease.
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.
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