Congenital Heart Disease in Primary Ciliary Dyskinesia

1998 ◽  
Vol 19 (2) ◽  
pp. 191-191 ◽  
Author(s):  
Andrew Bush
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Primary Ciliary Dyskinesia ◽  
Congenital Heart ◽  
Ciliary Dyskinesia

scholarly journals Congenital Heart Disease and Other Heterotaxic Defects in a Large Cohort of Patients With Primary Ciliary Dyskinesia

Circulation ◽  
2007 ◽  
Vol 115 (22) ◽  
pp. 2814-2821 ◽  
Author(s):  
Marcus P. Kennedy ◽  
Heymut Omran ◽  
Margaret W. Leigh ◽  
Sharon Dell ◽  
Lucy Morgan ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Primary Ciliary Dyskinesia ◽  
Congenital Heart ◽  
Large Cohort ◽  
Ciliary Dyskinesia

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

Thorax ◽  
2018 ◽  
Vol 74 (2) ◽  
pp. 203-205 ◽  
Author(s):  
Sunayna Best ◽  
Amelia Shoemark ◽  
Bruna Rubbo ◽  
Mitali P Patel ◽  
Mahmoud R Fassad ◽  
...  
Keyword(s):  
Risk Factors ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Retrospective Cohort ◽  
Primary Ciliary Dyskinesia ◽  
Congenital Heart ◽  
Situs Inversus Totalis ◽  
Biallelic Mutations ◽  
Ciliary Dyskinesia ◽  
Laterality Defects

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.

Congenital Heart Disease and Primary Ciliary Dyskinesia

2016 ◽  
Vol 18 ◽  
pp. 25-32 ◽  
Author(s):  
Mike John Harrison ◽  
Adam J. Shapiro ◽  
Marcus Peter Kennedy
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Primary Ciliary Dyskinesia ◽  
Congenital Heart ◽  
Ciliary Dyskinesia
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