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Updated: Feb 5, 2026
High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
Published on: January 19, 2022
Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia
Sunayna Best1,2, Amelia Shoemark2,3, Bruna Rubbo4,5,6
1Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, London, UK.
Insights
Primary ciliary dyskinesia (PCD) is linked to abnormal organ positioning and heart defects. Specific gene mutations and parental consanguinity influence these conditions, aiding in risk prediction for cardiac and laterality defects.
Area of Science:
- Medical Genetics
- Developmental Biology
- Cardiology
Background:
- Primary ciliary dyskinesia (PCD) is a genetic disorder affecting cilia function.
- PCD is frequently associated with congenital heart disease (CHD) and abnormal organ positioning (situs).
- Understanding genotype-phenotype correlations is crucial for predicting PCD-related defects.
Purpose of the Study:
- To investigate genotype-phenotype associations in Primary ciliary dyskinesia.
- To identify specific PCD genes linked to normal organ positioning.
- To facilitate risk prediction for cardiac and laterality defects in PCD patients.
Main Methods:
- Retrospective cohort study of 389 UK patients diagnosed with PCD.
- Analysis of genetic mutations, parental consanguinity, and occurrence of situs abnormalities.
- Correlation of situs defects with congenital heart disease and other laterality defects.
Main Results:
- 51% of PCD patients exhibited abnormal situs.
- 25% had CHD and/or laterality defects beyond situs inversus totalis.
- Biallelic mutations in a subset of nine PCD genes were associated with normal situs.
- Consanguinity increased the odds of situs abnormalities.
- Abnormal situs correlated with higher odds of CHD and/or laterality defects.
Conclusions:
- Specific PCD gene mutations are associated with normal organ positioning.
- Parental consanguinity is a risk factor for situs abnormalities in PCD.
- Abnormal situs in PCD patients significantly increases the risk for co-occurring cardiac and laterality defects.
- Genotype-phenotype analysis can improve risk stratification for complex phenotypes in PCD.
Abstract:
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.
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