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Updated: Mar 30, 2026

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
Published on: January 19, 2022
Congenital Heart Disease and Primary Ciliary Dyskinesia
Mike John Harrison1, Adam J Shapiro2, Marcus Peter Kennedy3
1Cambridge Centre for Lung infection, Papworth Hospital NHS Trust, Papworth Everard, Cambridge, CB23 3RE, United Kingdom.
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.
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