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

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

in Abnormalities, Multiple - epidemiology / Abnormalities, Multiple - genetics / Biomedical research / Cardiovascular disease / Ciliary Motility Disorders - epidemiology / Ciliary Motility Disorders - genetics / Congenital diseases / Consanguinity / Defects / Dyskinesia / Female / Genes / Genetic Predisposition to Disease / Genetics / Genotype / Heart / Heart Defects, Congenital - epidemiology / Heart Defects, Congenital - genetics / Hospitals / Humans / Male / Mutation / Phenotype / Prevalence / Retrospective Studies / Risk Factors / Situs Inversus - epidemiology / Situs Inversus - genetics / Studies / United Kingdom - epidemiology

2019

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

2019

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2019

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Journal Article

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

Pengelly, Reuben,

Best, Sunayna,

Loebinger, Michael R,

Wilson, Robert,

Chung, Eddie MK,

Cullup, Thomas,

Hirst, Robert A,

Goggin, Patricia,

Rutman, Andrew,

Jackson, Claire L,

Thomas, Simon,

Doughty, Victoria L,

Lucas, Jane S,

Carvalho, Julene S,

Pissaridou, Eleni,

Patel, Mitali P,

O’Callaghan, Christopher,

Shoemark, Amelia,

Mitchison, Hannah M,

Rogers, Andrew V,

Ollosson, Sarah,

Dixon, Mellisa,

Fassad, Mahmoud R,

Hayward, Jane,

Rubbo, Bruna,

Hogg, Claire,

Onoufriadis, Alexandros,

Kenia, Priti

2019

Overview

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.

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Publisher

BMJ Publishing Group LTD

Subject

Abnormalities, Multiple - epidemiology

/ Abnormalities, Multiple - genetics

/ Biomedical research

/ Cardiovascular disease

/ Ciliary Motility Disorders - epidemiology

/ Ciliary Motility Disorders - genetics

/ Congenital diseases