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Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia

Best, S; Shoemark, A; Rubbo, B; Patel, MP; Fassad, MR; Dixon, M; Rogers, AV; Hirst, RA; Rutman, A; Ollosson, A; et al. Best, S; Shoemark, A; Rubbo, B; Patel, MP; Fassad, MR; Dixon, M; Rogers, AV; Hirst, RA; Rutman, A; Ollosson, A; Jackson, C; Goggin, P; Thomas, S; Pengelly, R; Cullup, T; Pissaridou, E; Hayward, J; Onoufriadis, A; O'Callaghan, C; Loebinger, MR; Wilson, R; Chung, E; Kenia, P; Doughty, V; Carvalho, JS; Lucas, JS; Mitchinson, HM; Hogg, C (2019) Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia. Thorax, 74 (2). pp. 203-205. ISSN 1468-3296 https://doi.org/10.1136/thoraxjnl-2018-212104
SGUL Authors: Carvalho, Julene

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Abstract

Primary ciliary dyskinesia (PCD) is associated with abnormal organ positioning (situs) and congenital heart disease (CHD). This study investigated genotype–phenotype associations in PCD to facilitate risk predictions for cardiac and laterality defects. This retrospective cohort study of 389 UK patients with PCD found 51% had abnormal situs and 25% had CHD and/or laterality defects other than situs inversus totalis. Patients with biallelic mutations in a subset of nine PCD genes had normal situs. Patients with consanguineous parents had higher odds of situs abnormalities than patients with non-consanguineous parents. Patients with abnormal situs had higher odds of CHD and/or laterality defects.

Item Type: Article
Additional Information: This article has been accepted for publication in Thorax following peer review. The definitive copyedited, typeset version Best S, Shoemark A, Rubbo B, et al Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia Thorax 2019;74:203-205 is available online at: http://dx.doi.org/10.1136/thoraxjnl-2018-212104
Keywords: Respiratory System, 1103 Clinical Sciences
SGUL Research Institute / Research Centre: Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Journal or Publication Title: Thorax
ISSN: 1468-3296
Dates:
DateEvent
February 2019Published
30 August 2018Published Online
23 July 2018Accepted
Publisher License: Publisher's own licence
Projects:
Project IDFunderFunder ID
GN2101Action Medical Researchhttp://dx.doi.org/10.13039/501100000317
10-11/15Newlife FoundationUNSPECIFIED
UNSPECIFIEDNational Institute for Health Researchhttp://dx.doi.org/10.13039/501100000272
UNSPECIFIEDGreat Ormond Street Hospital Charityhttp://dx.doi.org/10.13039/501100001279
URI: http://openaccess.sgul.ac.uk/id/eprint/110047
Publisher's version: https://doi.org/10.1136/thoraxjnl-2018-212104

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