title: Congenital Heart Disease and Primary Ciliary Dyskinesia.
abstract: Through the better understanding of the genetics and clinical associations of Primary Ciliary Dyskinesia (PCD), an autosomal recessive disorder of ciliary motility and mucociliary clearance, the association between PCD and heterotaxic congenital heart disease (CHD) has been established. In parallel, research into the cause of CHD has elucidated further the role of ciliary function on the development of normal cardiovascular structure. Increased awareness by clinicians regarding this elevated risk of PCD in patients with CHD will allow for more comprehensive screening and identification of cases in this high-risk group with earlier diagnosis leading to improved health outcomes.
authors.affiliation: Cambridge Centre for Lung infection, Papworth Hospital NHS Trust, Papworth Everard, Cambridge, CB23 3RE, United Kingdom. Electronic address: mike.harrison9@nhs.net.
authors.forename: Mike John
authors.initials: MJ
authors.lastname: Harrison
authors.affiliation: Pediatric Respiratory Medicine, Montreal Children's Hospital, McGill University, 1001 Decarie Blvd - BRC.5016, Montreal, Quebec, Canada, H4A 3J1. Electronic address: adam.shapiro@muhc.mcgill.ca.
authors.forename: Adam J
authors.initials: AJ
authors.lastname: Shapiro
authors.affiliation: Consultant Respiratory and General Physician, Cork University Hospital, Wilton, Cork, Ireland. Electronic address: marcus.kennedy@hse.ie.
authors.forename: Marcus Peter
authors.initials: MP
authors.lastname: Kennedy
mesh_terms: D000015:Abnormalities, Multiple; D020022:Genetic Predisposition to Disease; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007619:Kartagener Syndrome / Q000235:genetics*
keywords: CHD; Heterotaxy; Nodal cilia; PCD