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. Loebinger & 8 others Robert Wilson, Eddie Mk Chung, Priti Kenia, Victoria L. Doughty, Julene S. Carvalho, Jane S. Lucas, Hannah M. Mitchison, Claire Hogg

Research output: Contribution to journalArticle

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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.

Original languageEnglish
Pages (from-to)203-205
Number of pages3
JournalThorax
Volume74
Issue number2
Early online date30 Aug 2018
DOIs
Publication statusPublished - Feb 2019

Fingerprint

Kartagener Syndrome
Heart Diseases
Parents
Situs Inversus
Genetic Association Studies
Cohort Studies
Retrospective Studies
Mutation
Genes

Keywords

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

Cite this

Best, Sunayna ; Shoemark, Amelia ; Rubbo, Bruna ; Patel, Mitali P. ; Fassad, Mahmoud R. ; Dixon, Mellisa ; Rogers, Andrew V. ; Hirst, Robert A. ; Rutman, Andrew ; Ollosson, Sarah ; Jackson, Claire L. ; Goggin, Patricia ; Thomas, Simon ; Pengelly, Reuben ; Cullup, Thomas ; Pissaridou, Eleni ; Hayward, Jane ; Onoufriadis, Alexandros ; O'Callaghan, Christopher ; Loebinger, Michael R. ; Wilson, Robert ; Chung, Eddie Mk ; Kenia, Priti ; Doughty, Victoria L. ; Carvalho, Julene S. ; Lucas, Jane S. ; Mitchison, Hannah M. ; Hogg, Claire. / Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia. In: Thorax. 2019 ; Vol. 74, No. 2. pp. 203-205.
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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.",
keywords = "bronchiectasis, paediatric lung disaese, primary ciliary dyskinesia, rare lung diseases",
author = "Sunayna Best and Amelia Shoemark and Bruna Rubbo and Patel, {Mitali P.} and Fassad, {Mahmoud R.} and Mellisa Dixon and Rogers, {Andrew V.} and Hirst, {Robert A.} and Andrew Rutman and Sarah Ollosson and Jackson, {Claire L.} and Patricia Goggin and Simon Thomas and Reuben Pengelly and Thomas Cullup and Eleni Pissaridou and Jane Hayward and Alexandros Onoufriadis and Christopher O'Callaghan and Loebinger, {Michael R.} and Robert Wilson and Chung, {Eddie Mk} and Priti Kenia and Doughty, {Victoria L.} and Carvalho, {Julene S.} and Lucas, {Jane S.} and Mitchison, {Hannah M.} and Claire Hogg",
note = "This research is supported by the BEAT-PCD: Better Evidence to Advance Therapeutic Options for PCD network (COST Action 1407). Work at the Royal Brompton Hospital was partially supported by the European Society of Cardiology. SB was supported by an Academic Clinical Fellowship funded by the National Institute of Health Research (NIHR) and Imperial College London Biomedical Research Centre (BRC). Work in Southampton is supported by NIHR Respiratory BRC and NIHR Wellcome Trust Clinical Research Facility. Work by AS was independent research funded by a postdoctoral research fellowship from the NIHR and Health Education England. EP, CO’C and HMM are supported by the NIHR Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London. HMM acknowledges grants from Action Medical Research (GN2101), Newlife Foundation (10-11/15) and the Great Ormond Street Hospital Children’s Charity.",
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Best, S, Shoemark, A, Rubbo, B, Patel, MP, Fassad, MR, Dixon, M, Rogers, AV, Hirst, RA, Rutman, A, Ollosson, S, Jackson, CL, Goggin, P, Thomas, S, Pengelly, R, Cullup, T, Pissaridou, E, Hayward, J, Onoufriadis, A, O'Callaghan, C, Loebinger, MR, Wilson, R, Chung, EM, Kenia, P, Doughty, VL, Carvalho, JS, Lucas, JS, Mitchison, HM & Hogg, C 2019, 'Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia', Thorax, vol. 74, no. 2, pp. 203-205. https://doi.org/10.1136/thoraxjnl-2018-212104

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

In: Thorax, Vol. 74, No. 2, 02.2019, p. 203-205.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia

AU - Best, Sunayna

AU - Shoemark, Amelia

AU - Rubbo, Bruna

AU - Patel, Mitali P.

AU - Fassad, Mahmoud R.

AU - Dixon, Mellisa

AU - Rogers, Andrew V.

AU - Hirst, Robert A.

AU - Rutman, Andrew

AU - Ollosson, Sarah

AU - Jackson, Claire L.

AU - Goggin, Patricia

AU - Thomas, Simon

AU - Pengelly, Reuben

AU - Cullup, Thomas

AU - Pissaridou, Eleni

AU - Hayward, Jane

AU - Onoufriadis, Alexandros

AU - O'Callaghan, Christopher

AU - Loebinger, Michael R.

AU - Wilson, Robert

AU - Chung, Eddie Mk

AU - Kenia, Priti

AU - Doughty, Victoria L.

AU - Carvalho, Julene S.

AU - Lucas, Jane S.

AU - Mitchison, Hannah M.

AU - Hogg, Claire

N1 - This research is supported by the BEAT-PCD: Better Evidence to Advance Therapeutic Options for PCD network (COST Action 1407). Work at the Royal Brompton Hospital was partially supported by the European Society of Cardiology. SB was supported by an Academic Clinical Fellowship funded by the National Institute of Health Research (NIHR) and Imperial College London Biomedical Research Centre (BRC). Work in Southampton is supported by NIHR Respiratory BRC and NIHR Wellcome Trust Clinical Research Facility. Work by AS was independent research funded by a postdoctoral research fellowship from the NIHR and Health Education England. EP, CO’C and HMM are supported by the NIHR Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London. HMM acknowledges grants from Action Medical Research (GN2101), Newlife Foundation (10-11/15) and the Great Ormond Street Hospital Children’s Charity.

PY - 2019/2

Y1 - 2019/2

N2 - 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.

AB - 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.

KW - bronchiectasis

KW - paediatric lung disaese

KW - primary ciliary dyskinesia

KW - rare lung diseases

U2 - 10.1136/thoraxjnl-2018-212104

DO - 10.1136/thoraxjnl-2018-212104

M3 - Article

VL - 74

SP - 203

EP - 205

JO - Thorax

JF - Thorax

SN - 0040-6376

IS - 2

ER -