Clinical cases of congenital heart defects in children with genetic syndromes

Children with genetic syndromes are encountered in the clinical practice of a pediatrician. The complexity of this category of patients lies in the fact that patients often have a severe course of the disease with combined damage to many organs and systems, including often the cardiovascular system, namely the presence of congenital heart defects. Аim - demonstration of clinical cases of congenital heart defects in children with Down syndrome and DiGeorge syndrome to improve the diagnosis and treatment of cardiovascular pathology in patients with genetic syndromes. When describing clinical cases in children with Down syndrome and DiGeorge syndrome, a congenital anomaly of the cardiovascular system was detected during routine echocardiography. Early establishment of the main diagnosis and knowledge of the clinical manifestations of these syndromes allowed for the timely detection of concomitant congenital heart defects and the correction of these defects as early as possible. Conclusions. Timely diagnosis and correction of congenital heart disease in children with genetic syndromes allows for the most positive outcome in the further treatment and management of patients in this category. The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patients was obtained for the study. The author declares no conflict of interest.

Authors

Publication Details

Journal
Modern pediatrics Ukraine
Published
2025-04-28
DOI
https://doi.org/10.15574/sp.2025.3(147).137140
Primary Topic
Congenital Heart Disease Studies
Type
article
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Clinical cases of congenital heart defects in children with genetic syndromes

Z.V. Selska
Modern pediatrics Ukraine
Congenital Heart Disease Studies
article

Clinical cases of congenital heart defects in children with genetic syndromes

Z.V. Selska
article en

Abstract

Children with genetic syndromes are encountered in the clinical practice of a pediatrician. The complexity of this category of patients lies in the fact that patients often have a severe course of the disease with combined damage to many organs and systems, including often the cardiovascular system, namely the presence of congenital heart defects. Аim - demonstration of clinical cases of congenital heart defects in children with Down syndrome and DiGeorge syndrome to improve the diagnosis and treatment of cardiovascular pathology in patients with genetic syndromes. When describing clinical cases in children with Down syndrome and DiGeorge syndrome, a congenital anomaly of the cardiovascular system was detected during routine echocardiography. Early establishment of the main diagnosis and knowledge of the clinical manifestations of these syndromes allowed for the timely detection of concomitant congenital heart defects and the correction of these defects as early as possible. Conclusions. Timely diagnosis and correction of congenital heart disease in children with genetic syndromes allows for the most positive outcome in the further treatment and management of patients in this category. The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patients was obtained for the study. The author declares no conflict of interest.

Modern pediatrics Ukraine(3(147))
Good health and well-being
Openalex Percentile: Top 72%
Congenital Heart Disease Studies
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