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

Sunayna Best, Amelia Shoemark, Bruna Rubbo, Mitali P. Patel, Mahmoud R. Fassad, Mellisa Dixon, Andrew V. Rogers, Robert A. Hirst, Andrew Rutman, Sarah Ollosson, Claire L. Jackson, Patricia Goggin, Simon Thomas, Reuben Pengelly, Thomas Cullup, Eleni Pissaridou, Jane Hayward, Alexandros Onoufriadis, Christopher O'Callaghan, Michael R. LoebingerRobert Wilson, Eddie Mk Chung, Priti Kenia, Victoria L. Doughty, Julene S. Carvalho, Jane S. Lucas, Hannah M. Mitchison (Lead / Corresponding author), Claire Hogg

    Research output: Contribution to journalArticlepeer-review

    48 Citations (Scopus)
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    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.

    Original languageEnglish
    Pages (from-to)203-205
    Number of pages3
    Issue number2
    Early online date30 Aug 2018
    Publication statusPublished - Feb 2019


    • bronchiectasis
    • paediatric lung disaese
    • primary ciliary dyskinesia
    • rare lung diseases

    ASJC Scopus subject areas

    • Pulmonary and Respiratory Medicine


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