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The diagnostic yield of cardiac screening in first-degree relatives of sudden arrhythmic death syndrome or unexplained cardiac arrest probands: A systematic review of the literature

Tollit, J; Tu, IT; Norrish, G; Field, E; Wray, J; Kaski, JP; (2025) The diagnostic yield of cardiac screening in first-degree relatives of sudden arrhythmic death syndrome or unexplained cardiac arrest probands: A systematic review of the literature. Progress in Pediatric Cardiology , 78 , Article 101816. 10.1016/j.ppedcard.2025.101816. Green open access

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Abstract

Background: First-degree relatives of Sudden Arrhythmic Death Syndrome (SADS) or Unexplained Cardiac Arrest (UCA) are recommended to undergo clinical evaluation for potential inherited cardiac conditions (ICC). However, data on the yield of family screening in these populations remains scarce. Aim of review: This systematic review aimed to explore the diagnostic yield of clinical screening of first-degree relatives of SADS or UCA probands. A secondary aim was to compare the diagnostic yield of adult-aged and pediatric-aged relatives. Key scientific concepts of review: Included studies described the clinical cardiac screening and yield of first-degree relatives of SADS and UCA probands. Quality of selected studies was assessed using a modified Joanna Briggs Institute checklist. 14 studies met inclusion criteria for this review, together including 1646 first-degree relatives of SADS probands and 656 first-degree relatives of UCA probands. Overall diagnostic yield described ranged from 0 to 32 %. The combined mean diagnostic yield of SADS relatives did not differ significantly from that of relatives of UCA probands. Three studies described outcomes of clinical screening in pediatric relatives, with an overall reported yield of 9.4 % ± 3.4 %, not significantly different from adult populations. Whilst there is a clear indication for clinical screening of first-degree relatives following SADS or an UCA, a lack of well-designed large population-based studies means that the evidence base is not robust. The yield in reported literature varies considerably, with no difference between SADS and UCA cohorts and a similar yield in pediatric and adult relatives. This supports screening for all first-degree relatives regardless of age.

Type: Article
Title: The diagnostic yield of cardiac screening in first-degree relatives of sudden arrhythmic death syndrome or unexplained cardiac arrest probands: A systematic review of the literature
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.ppedcard.2025.101816
Publisher version: https://doi.org/10.1016/j.ppedcard.2025.101816
Language: English
Additional information: © 2025 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
Keywords: Sudden Arrhythmic Death Syndrome (SADS), Sudden cardiac death, Inherited cardiac conditions
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science
URI: https://discovery.ucl.ac.uk/id/eprint/10210043
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