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

• DOI: 10.1161/circulationaha.106.649038
• Publication Date: 2007-05-22T17:22:58Z
• Authors: Marcus P. Kennedy; Heymut Omran; Margaret W. Leigh; Sharon Dell; Lucy Morgan; Paul L. Molina; Blair V. Robinson; Susan L. Minnix; Heike Olbrich; Thomas Severin; Peter Ahrens; Lars Lange; Hilda N. Morillas; Peadar G. Noone; Maimoona A. Zariwala; Michael R. Knowles
• Keywords: Heterotaxy; Dextrocardia; Kartagener Syndrome; Ciliopathy

Primary ciliary dyskinesia (PCD) is a recessive genetic disorder that characterized by sinopulmonary disease and reflects abnormal structure function. Situs inversus totalis occurs in approximately 50% of PCD patients (Kartagener's syndrome PCD), there are few reports with heterotaxy (situs ambiguus), such as cardiovascular anomalies. Advances diagnosis PCD, testing, allow the systematic investigation this association.The prevalence heterotaxic defects was determined 337 retrospective review radiographic ultrasound data. solitus (normal situs) situs were identified 46.0% 47.7% patients, respectively, 6.3% (21 patients) had heterotaxy. As compared solitus, those abnormalities more outer dynein arm defects, fewer inner central apparatus (P<0.001), mutations genes (DNAI1 DNAH5; P=0.022). Seven 12 who genotyped DNAI1 or DNAH5. Twelve cardiac and/or vascular abnormalities, most (8 complex congenital heart disease.At least have heterotaxy, abnormalities. The 200-fold higher than general population (1:50 versus 1:10 000); thus, should evaluation. Conversely, adversely affect both respiratory embryological nodal cilia significant cause disease, screening for indicated patients.