Neurodevelopment in children with congenital heart disease: strategies for early diagnosis, intervention, and follow-up
DOI:
https://doi.org/10.55892/jrg.v8i19.2599Keywords:
neurodevelopmental disorders, congenital heart defects, early diagnosis, continuity of patient care, patient care teamAbstract
Congenital heart defects (CHD) represent the most prevalent cardiac malformation in the neonatal period and constitute a major cause of infant morbidity, mortality, and neurodevelopmental impairment. This study aimed to analyze scientific evidence regarding the relationship between congenital heart disease, hemodynamic instability, and neuropsychological outcomes, considering associated genetic, metabolic, and gestational factors. This is an integrative literature review, systematized through the following stages: (a) identification of the guiding question, (b) digital literature search, (c) evaluation of findings, (d) interpretative analysis of results, and (e) discussion and synthesis of knowledge. Data collection was performed in the PubMed/MEDLINE and SciELO databases, complemented by an institutional source from the Sociedade Brasileira de Pediatria (SBP). A total of 3,704 records were identified, resulting in 21 studies included after applying eligibility criteria.
The results were organized into seven thematic axes: maternal risk factors, neonatal diagnosis and screening, epidemiological profile, genetic and fetal aspects, neurodevelopmental outcomes, multidisciplinary follow-up, and psychosocial impact. Chronic hypoperfusion and cerebral hypoxia were found to be the main link between cardiac alterations and neurodevelopmental cognitive and motor deficits, while the combination of pulse oximetry, cardiac auscultation, and echocardiography proved to be the most sensitive method for early screening and diagnosis. It is concluded that the integration of standardized neonatal screening, genetic assessment, and multidisciplinary follow-up is essential to reduce neurological sequelae and improve the overall prognosis of children with congenital heart disease, reinforcing the importance of public policies for early detection and interdisciplinary rehabilitation.
Downloads
References
ABELL, Bridget R.; EAGLESON, Karen; AULD, Benjamin; et al. Implementing neurodevelopmental follow-up care for children with congenital heart disease: a scoping review with evidence mapping. Developmental Medicine & Child Neurology, v. 66, p. 161–175, 2023. DOI: https://doi.org/10.1111/dmcn.15698.
BONNET, Damien. Impacts of prenatal diagnosis of congenital heart diseases on outcomes. Translational Pediatrics, v. 10, n. 8, p. 2241–2249, 2021. DOI: https://doi.org/10.21037/tp-20-267.
CABRAL, Gustavo Henrique Bernardo; GUERRA, João Victor Nascimento; PEDROSA, Kevin Uchoa; et al. Congenital heart disease: epidemiological profile of live births, geographical distribution and temporal trends in Brazil from 2012 to 2022. BMC Cardiovascular Disorders, v. 25, n. 599, 2025. DOI: https://doi.org/10.1186/s12872-025-05079-8.
DAGUR, Gautam; KLEINMAHON, Jake A.; GURVITZ, Michelle Z.; et al. Characterizing neurodevelopmental follow-up attendance of children with congenital heart disease. Pediatric Research, 2025. DOI: https://doi.org/10.1038/s41390-025-04247-y.
FIELDS, V. L.; TIAN, L. H.; WIGGINS, L. D.; et al. Prevalence of Developmental, Psychiatric, and Neurologic Conditions in Older Siblings of Children with and without Autism Spectrum Disorder: Study to Explore Early Development. Journal of Autism and Developmental Disorders, 2024. DOI: https://doi.org/10.1007/s10803-024-06464-6
GILL, Kamalvir; et al. Chromosomal microarray detects genetic risks of neurodevelopmental disorders in newborns with congenital heart disease. Cardiology in the Young, v. 31, p. 1275–1282, 2021. DOI: 10.1017/S1047951121000202.
HUANG, Panpan; GU, Qing; ZHU, Xiaoting; et al. The training and evaluation of the “dual-index” screening method for neonatal congenital heart disease: a multi-center study in China. International Journal of Neonatal Screening, v. 11, n. 1, p. 8, 2025. DOI: https://doi.org/10.3390/ijns11010008.
HUANG, Yuqiang; ZHONG, Shiqing; ZHANG, Xianmei; et al. Large scale application of pulse oximeter and auscultation in screening of neonatal congenital heart disease. BMC Pediatrics, v. 22, n. 483, 2022. DOI: https://doi.org/10.1186/s12887-022-03540-7.
LEPAGE, Charles; BAYARD, Jade; GAUDET, Isabelle; et al. Parenting stress in infancy was associated with neurodevelopment in 24-month-old children with congenital heart disease. Acta Paediatrica, v. 114, p. 164–172, 2025. DOI: https://doi.org/10.1111/apa.17421.
LEMIEUX, Alyssia; KHALILIPALANDI, Sara; LAUZON-SCHNITTKA, Jonathan; et al. Meta-analysis of risk factors for congenital heart disease: part 2, maternal medication, reproductive technologies, and familial and fetal factors. Canadian Journal of Cardiology, v. 40, p. 2496–2511, 2024. DOI: https://doi.org/10.1016/j.cjca.2024.09.011.
LINDSAY, Edward A. The genetics of neurodevelopment in congenital heart disease. Developmental Neurobiology, v. 84, n. 1, p. 22–36, 2024. DOI: 10.1002/dneu.22990.
MELLION, Kelly; et al. White matter tract microstructure and neurodevelopmental outcomes in children with congenital heart disease. Circulation Research, v. 133, n. 6, p. 655–670, 2023. DOI: 10.1161/CIRCRESAHA.123.322265.
PAGE, M. J. et al. The PRISMA 2020 statement: an updated guideline for reporting systematic reviews. The BMJ (Clinical Research Ed.), Londres, v. 372, n. 71, mar. 2021.
SADHWANI, Anjali; et al. Fetal brain volume predicts neurodevelopment in congenital heart disease. Circulation, v. 145, n. 15, p. 1108–1119, 2022. DOI: 10.1161/CIRCULATIONAHA.121.056305.
SAGANSKI, Gabrielle Freitas; FREIRE, Márcia Helena de Souza; SANTOS, Wendel Mombaque dos. Teste de oximetria de pulso para triagem de cardiopatias congênitas: revisão sistemática. Revista da Escola de Enfermagem da USP, v. 57, e20230215, 2023. DOI: https://doi.org/10.1590/1980-220X-REEUSP-2023-0215.
SANZ, Jacqueline H. et al. Trajectories of neurodevelopment and opportunities for intervention across the lifespan in congenital heart disease. Child Neuropsychology, v. 29, n. 7, p. 1128–1154, 2023. DOI: 10.1080/09297049.2023.2173162.
SILVA, Mariana Tavares da; SILVA, Aline Cerqueira Santos Santana da; SANTANA, Jhonatan Jhobber; et al. Fatores associados à indicação de ecocardiografia neonatal na investigação de cardiopatias congênitas. Revista Gaúcha de Enfermagem, Porto Alegre, v. 45, e20230170, 2024. DOI: https://doi.org/10.1590/1983-1447.2024.20230170.pt.
SOOD, Erica; NEWBURGER, Jane W.; ANIXT, Julia S.; et al. Neurodevelopmental outcomes for individuals with congenital heart disease: updates in neuroprotection, risk-stratification, evaluation, and management: a scientific statement from the American Heart Association. Circulation, v. 149, p. e997–e1022, 2024. DOI: https://doi.org/10.1161/CIR.0000000000001211.
SOCIEDADE BRASILEIRA DE PEDIATRIA. Cardiopatias congênitas: diagnóstico e tratamento. Departamento Científico de Cardiologia. São Paulo: SBP, 2022. Disponível em: https://www.sbp.com.br.
SONG, Jiajia; HUANG, Xianping; ZHAO, Shenzhi; et al. Diagnostic value of pulse oximetry combined with cardiac auscultation in screening congenital heart disease in neonates. Journal of International Medical Research, v. 49, n. 5, p. 1–10, 2021. DOI: https://doi.org/10.1177/03000605211016137.
WANG, Qing; et al. Psychological distress and associated factors among parents of children with congenital heart disease in China: a cross-sectional study. BMC Psychiatry, v. 21, n. 527, 2021. DOI: 10.1186/s12888-021-03324-w.
WU, Lina; LI, Na; LIU, Yong. Association between maternal factors and risk of congenital heart disease in offspring: a systematic review and meta-analysis. Maternal and Child Health Journal, v. 27, p. 29–48, 2023. DOI: https://doi.org/10.1007/s10995-022-03538-8.






































