Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia.
Sunayna BestAmelia ShoemarkBruna RubboMitali P PatelMahmoud R FassadMellisa DixonAndrew V RogersRobert A HirstAndrew RutmanSarah OllossonClaire L JacksonPatricia GogginSimon ThomasReuben PengellyThomas CullupEleni PissaridouJane HaywardAlexandros OnoufriadisChristopher O'CallaghanMichael R LoebingerRobert WilsonEddie Mk ChungPriti KeniaVictoria L DoughtyJulene S CarvalhoJane S LucasHannah M MitchisonClaire HoggPublished in: Thorax (2018)
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.