Clinical cases of congenital heart defects in children with genetic syndromes

Authors

DOI:

https://doi.org/10.15574/SP.2025.3(147).137140

Keywords:

children, genetic diseases, congenital heart disease, treatment

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.

References

Bull MJ, Trotter T, Santoro SL, Christensen C, Grout RW. (2022). Health supervision for children and adolescents with Down syndrome. Pediatrics. 149(5): e2022057010. https://doi.org/10.1542/peds.2022-057010; PMid:35490285

Butler G, Srirangalingam U, Faithfull J, Sangster P, Senniappan S, Mitchell R. (2023). Klinefelter syndrome: going beyond the diagnosis. Archives of disease in childhood. 108: 166-171. https://doi.org/10.1136/archdischild-2020-320831; PMid:35948402 PMCid:PMC7614197

Carey JC. (2021). Trisomy 18 and trisomy 13 syndromes. In book: Cassidy and Allanson's management of genetic syndromes: 937-956. https://doi.org/10.1002/9781119432692.ch58

Davis C, Grischkan J, Tobias JD. (2020). Perioperative Care of a Child With Cri Du Chat Syndrome. Journal of Medical Cases. 11(9): 279. https://doi.org/10.14740/jmc3494; PMid:34434412 PMCid:PMC8383670

Gelb BD, Tartaglia M. (2022). Noonan Syndrome with Multiple Lentigines. GeneReviews. URL: https://www.ncbi.nlm.nih.gov/books/NBK1383/.

Isgandarova K, Molatta S, Sommer P. (2021). Late diagnosed DiGeorge syndrome in a 44-year-old female: a rare cause for recurrent syncopes in adulthood - a case report. European Heart Journal Case Reports. 5(5): 166. https://doi.org/10.1093/ehjcr/ytab166; PMid:34013163 PMCid:PMC8117462

Kozel BA, Barak B, Kim CA, Mervis CB, Osborne LR, Porter M et al. (2021). Williams syndrome. Nature Reviews Disease Primers. 7(1): 42. https://doi.org/10.1038/s41572-021-00276-z; PMid:34140529 PMCid:PMC9437774

Krauser AF, Ponnarasu S, Schury MP. (2023). Holt-Oram Syndrome. StatPearls. URL: https://www.ncbi.nlm.nih.gov/books/NBK513339/.

Stevens CA. (2023). Rubinstein-Taybi Syndrome. GeneReviews. URL: https://www.ncbi.nlm.nih.gov/books/NBK1526/.

Wang J, Wang X, Jia Y, Li X, Liu G, Sa R, Yu H. (2023). A homozygous EVC mutation in a prenatal fetus with Ellis-van Creveld syndrome. Molecular Genetics & Genomic Medicine. 11(8): e2183. https://doi.org/10.1002/mgg3.2183; PMid:37157924 PMCid:PMC10422067

Published

2025-04-28