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.
Funder
National Institute for Health Research
Action Medical Research
Great Ormond Street Hospital Children’s Charity
Newlife Foundation for Disabled Children
European Society of Cardiology
Subject
Pulmonary and Respiratory Medicine
Cited by
51 articles.
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