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.
Original languageEnglish
Article number1
JournalJournal of Congenital Cardiology
Number of pages14
Publication statusPublished - 2021

Bibliographical note

M1 - (Santoro S.L., Division of Medical Genetics and Metabolism, Massachusetts General Hospital, Boston, MA, United States

M1 - (Santoro S.L., Department of Pediatrics, Harvard Medical School, Boston, MA, United States

M1 - (Steffensen E.H.) Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark

M1 - (Steffensen E.H.) Center for Fetal Diagnostics, Aarhus University, Aarhus, Denmark

    Research areas

  • cardiovascular malformation, congenital heart disease, congenital heart malformation, disease classification, disease severity, Down syndrome, Ebstein anomaly, echocardiography, Eisenmenger complex, electrocardiogram, endocardial cushion defect, Fallot tetralogy, fetus death, fetus malformation, great vessels transposition, heart atrium septum defect, heart disease, heart right ventricle double outlet, heart single ventricle, heart ventricle septum defect, human, lung vein drainage anomaly, patent ductus arteriosus, physical examination, prevalence, priority journal, pulmonary valve atresia, review, screening, survival rate, thorax radiography, tricuspid valve atresia

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