Congenital Heart Disease and Primary Ciliary Dyskinesia

Paediatr Respir Rev. 2016 Mar:18:25-32. doi: 10.1016/j.prrv.2015.09.003. Epub 2015 Sep 26.


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.

Keywords: CHD; Heterotaxy; Nodal cilia; PCD.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple*
  • Genetic Predisposition to Disease*
  • Heart Defects, Congenital / genetics*
  • Humans
  • Kartagener Syndrome / genetics*