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

Thorax. 2019 Feb;74(2):203-205. doi: 10.1136/thoraxjnl-2018-212104. Epub 2018 Aug 30.


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.

Keywords: bronchiectasis; paediatric lung disaese; primary ciliary dyskinesia; rare lung diseases.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / epidemiology*
  • Abnormalities, Multiple / genetics
  • Ciliary Motility Disorders / epidemiology*
  • Ciliary Motility Disorders / genetics
  • Consanguinity
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Heart Defects, Congenital / epidemiology*
  • Heart Defects, Congenital / genetics
  • Humans
  • Male
  • Mutation
  • Phenotype
  • Prevalence
  • Retrospective Studies
  • Risk Factors
  • Situs Inversus / epidemiology*
  • Situs Inversus / genetics
  • United Kingdom / epidemiology