Chromosomal abnormalities in children as a predictor of the development of congenital heart and vascular diseases
DOI:
https://doi.org/10.15574/SP.2024.139.113Keywords:
congenital heart defects, chromosomal pathology, early diagnosis, prognosis, childrenAbstract
Congenital heart defects (CHDs) are the most common of all congenital abnormalities in children and cover a wide range of lesions. They can manifest as minor defects and very complex combined lesions that are incompatible with life. CHDs occur on average in 8-10 cases per 100 live births. The complexity and diversity of cardiovascular defects is traditionally explained by multifactorial etiology, due to the interaction between several genes and environmental factors (the so-called “polygenic model”), but chromosomal abnormalities are often the leading factor in the occurrence of CHDs. The importance of studying chromosomal pathology in the context of CHD lies in the possibility of identifying specific genetic markers that are predictors of the development of these conditions.
The aim - to analyze the current research data on the frequency of CHDs in children with chromosomal pathology; find out the structural features and possibilities of correction of these defects; evaluate the prognostic possibilities of genetic counseling in the prevention and early detection of congenital cardiovascular system pathology in children with chromosomal defects.
The most common chromosomal abnormalities and their impact on the development of the child’s cardiovascular system are considered, and the current state of research in this area is reflected. Clinical signs of the main types of chromosomal abnormalities, their cardiac and extracardiac manifestations are presented. It is established that the largest proportion of CHDs in patients with chromosomal abnormalities are septal defects, which are usually associated with impaired development of endocardial cushions due to an imbalance in the expression of genes located on the affected chromosomes. Genetic testing for congenital cardiovascular abnormality can potentially improve prognosis by providing valuable information on personalized health care, confidence in clinical diagnosis, and patient follow-up.
No conflict of interest was declared by the authors.
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