Congenital heart disease in Down syndrome – A review of temporal changes

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Background: Congenital heart disease (CHD) is a well-known co-occurring condition in Down syndrome (DS). We aimed to review the literature to evaluate the current evidence to address key questions. Methods: A series of key questions were formulated a priori to inform the search strategy and review process. These addressed the topics of prevalence, type of CHD, severity, and screening. Using the National Library of Medicine database, PubMed, detailed literature searches were performed. The quality of available evidence was then evaluated, the existing literature was summarized, and knowledge gaps were identified. Results: Fifty-six relevant original articles were identified which addressed at least one key question. Study details, including: research design, internal validity, external validity, and relevant results are presented. The total prevalence of CHD reported in DS ranged from 20 to 57.9%. In later decades, the prevalence remained constant at 40—55%. The types and classification of CHD varied considerably between studies. Some studies indicate a trend towards a milder phenotype, but this was not consistent. Over time, some studies observed an improved prognosis for CHD in DS. Studies investigating screening for CHD by physical examination, chest X-ray, and electrocardiogram report sensitivities of 71–95%. Conclusion: To further improve knowledge on CHD in DS, we suggest that future studies cover a wide range of nations and regions, with a longitudinal design, and account for potential confounding factors.
TidsskriftJournal of Congenital Cardiology
Antal sider14
StatusUdgivet - 2021

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