Abstract
Kartagener's syndrome [situs inversus totalis (SIT), bronchiectasis and sinusitis] has been shown by others to have morphologically abnormal sperm tails and cilia, evidenced by absence of dynein arms. We used brush biopsies of the nasopharynx under local anesthesia for the study of ciliary morphology by EM in 9 patients with dextrocardia. Three of these have SIT and recurrent respiratory disease. One SIT lacks dynein arms and is a typical Kartagener's syndrome. A second SIT has abnormal (thickened and knobby) outer dynein arms in all cilia. This may be a new type of Kartagener's syndrome. The third SIT has normal dynein arms and some features of cystic fibrosis (CF), with intermittently elevated sweat sodium. The cultured fibroblasts of this patient do not show a CF-like response to ouabain, suggesting that this may not be CF. Of the 6 dextrocardiacs without SIT, all have normal dynein arms except one. In this patient (with L-TGA and without respiratory disease), the outer dynein arms are abnormally positioned in all cilia. We propose that dynein arm abnormalities may be an etiologic factor in a significant fraction of cardiac malrotations.
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Gerald, P., Schuster, S., Ruckman, R. et al. 912 CILIARY MORPHOLOGY AND CARDIAC MALROTATION. Pediatr Res 12 (Suppl 4), 515 (1978). https://doi.org/10.1203/00006450-197804001-00917
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DOI: https://doi.org/10.1203/00006450-197804001-00917