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; Robert Wilson; Eddie M.K. Chung; Priti Kenia; Victoria L. Doughty; Julene S. Carvalho; Jane S. Lucas; Hannah M. Mitchison; Claire Hogg

doi:10.1136/thoraxjnl-2018-212104

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 M.K. Chung, Priti Kenia, Victoria L. Doughty, Julene S. Carvalho, Jane S. Lucas, Hannah M. Mitchison, Claire Hogg

Research output: Journal article publication › Journal article › Academic research › peer-review

49 Citations (Scopus)

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 language	English
Pages (from-to)	203-205
Number of pages	3
Journal	Thorax
Volume	74
Issue number	2
DOIs	https://doi.org/10.1136/thoraxjnl-2018-212104
Publication status	Published - 1 Feb 2019
Externally published	Yes

Keywords

bronchiectasis
paediatric lung disaese
primary ciliary dyskinesia
rare lung diseases

ASJC Scopus subject areas

Pulmonary and Respiratory Medicine

More information

10.1136/thoraxjnl-2018-212104

Cite this

Best, S., Shoemark, A., Rubbo, B., Patel, M. P., Fassad, M. R., Dixon, M., Rogers, A. V., Hirst, R. A., Rutman, A., Ollosson, S., Jackson, C. L., Goggin, P., Thomas, S., Pengelly, R., Cullup, T., Pissaridou, E., Hayward, J., Onoufriadis, A., O'Callaghan, C., ... Hogg, C. (2019). Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia. Thorax, 74(2), 203-205. https://doi.org/10.1136/thoraxjnl-2018-212104

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title = "Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia",

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 M.K.} and Priti Kenia and Doughty, {Victoria L.} and Carvalho, {Julene S.} and Lucas, {Jane S.} and Mitchison, {Hannah M.} and Claire Hogg",

year = "2019",

month = feb,

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doi = "10.1136/thoraxjnl-2018-212104",

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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, EMK, 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

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 M.K.

AU - Kenia, Priti

AU - Doughty, Victoria L.

AU - Carvalho, Julene S.

AU - Lucas, Jane S.

AU - Mitchison, Hannah M.

AU - Hogg, Claire

PY - 2019/2/1

Y1 - 2019/2/1

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

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U2 - 10.1136/thoraxjnl-2018-212104

DO - 10.1136/thoraxjnl-2018-212104

M3 - Journal article

C2 - 30166424

AN - SCOPUS:85053711457

SN - 0040-6376

VL - 74

SP - 203

EP - 205

JO - Thorax

JF - Thorax

IS - 2

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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