Sleep medicine · 2026
Sleep disorders in genetic syndromes associated with congenital heart disease: A comprehensive review.
СтатьяСистематический обзорНазвание и аннотация: Перевод в очереди
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Prasad Sai, Priya Shambhavi, Khan Mariam, Jena Jiya, Sharma Shreya, Ahuja Aarushi, Parmar Vidhi, Rana Richa
Аннотация
BACKGROUND: Children with genetic syndromes frequently have congenital heart disease (CHD) and are at an increased risk of sleep disorders due to overlapping anatomical, neurological, and cardiopulmonary vulnerabilities. Despite growing recognition, sleep disorders remain underdiagnosed in this high-risk population, with potential consequences for cardiovascular health, neurodevelopmental health, and quality of life.
OBJECTIVE: To comprehensively review the prevalence, patterns, pathophysiological mechanisms, diagnostic challenges, and management strategies of sleep disorders in children with genetic syndromes associated with CHD.
METHODS: A comprehensive systematic literature search was conducted across PubMed/MEDLINE, Scopus, Web of Science, Google Scholar, and the Cochrane Library for studies published between January 2010 and December 2022. Eligible studies included children and adolescents (0-18 years) with genetic syndromes in which the CHD prevalence exceeded 30% and reported sleep-related outcomes. Forty-two studies met the inclusion criteria and were narratively synthesized.
RESULTS: Sleep-disordered breathing, particularly obstructive sleep apnea, was the most prevalent sleep disorder across syndromes, with the highest rates reported in Down syndrome, Noonan syndrome, and CHARGE syndrome. Central sleep apnea, hypoventilation, insomnia, and circadian rhythm disturbances were observed in syndromes with neurological or hypothalamic involvement. Sleep disorders are consistently associated with adverse cardiovascular, neurodevelopmental, and metabolic outcomes.
CONCLUSION: Sleep disorders are common, clinically significant, and under-recognized in children with genetic syndromes and CHD. Routine screening and multidisciplinary management are essential for improving long-term outcomes. Future prospective studies are needed to clarify the causal relationships and treatment efficacy.
OBJECTIVE: To comprehensively review the prevalence, patterns, pathophysiological mechanisms, diagnostic challenges, and management strategies of sleep disorders in children with genetic syndromes associated with CHD.
METHODS: A comprehensive systematic literature search was conducted across PubMed/MEDLINE, Scopus, Web of Science, Google Scholar, and the Cochrane Library for studies published between January 2010 and December 2022. Eligible studies included children and adolescents (0-18 years) with genetic syndromes in which the CHD prevalence exceeded 30% and reported sleep-related outcomes. Forty-two studies met the inclusion criteria and were narratively synthesized.
RESULTS: Sleep-disordered breathing, particularly obstructive sleep apnea, was the most prevalent sleep disorder across syndromes, with the highest rates reported in Down syndrome, Noonan syndrome, and CHARGE syndrome. Central sleep apnea, hypoventilation, insomnia, and circadian rhythm disturbances were observed in syndromes with neurological or hypothalamic involvement. Sleep disorders are consistently associated with adverse cardiovascular, neurodevelopmental, and metabolic outcomes.
CONCLUSION: Sleep disorders are common, clinically significant, and under-recognized in children with genetic syndromes and CHD. Routine screening and multidisciplinary management are essential for improving long-term outcomes. Future prospective studies are needed to clarify the causal relationships and treatment efficacy.