Congenital Heart Disease and Primary Ciliary Dyskinesia. (March 2016)

• Record Type: Journal Article
• Authors: Harrison, Mike John; Shapiro, Adam J.; Kennedy, Marcus Peter
• Is Part Of: Paediatric respiratory reviews. Volume 18(2016)
• Page Start: 25
• Page End: 32
• Publication Date: 2016-03
• Subjects: PCD -- CHD -- Heterotaxy -- Nodal cilia; Pediatric respiratory diseases -- Periodicals; Respiratory organs -- Diseases -- Periodicals; Respiratory Tract Diseases -- Periodicals; Respiratory Therapy -- Periodicals; Child -- Periodicals; Appareil respiratoire -- Infections, chez l'enfant -- Périodiques; Appareil respiratoire -- Maladies, chez l'enfant -- Périodiques; 618.922
• DOI: 10.1016/j.prrv.2015.09.003
• Languages: English
• ISSNs: 1526-0542

Abstract

Summary: 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.