Presentation
Term male with prenatal genetic testing positive for mutation associated with primary ciliary dyskinesia and prenatal US showing Heterotaxy with atrial isomerism and right-sided aorta with mirrored branching confirmed by CTA, previously admitted peripartum for management of respiratory failure now resolved being evaluated for follow-up.
Patient Data
Cardiac: There is dextrocardia as evidenced by the apex of the heart being positioned in the right hemithorax. There is an indistinct left cardiac border with otherwise anatomic cardiac silhouette morphology. Aortic shadow is not visualized on the left mediastinum.
Pulmonary: There is bilateral patchy perihilar airspace disease with diffuse Interstitial/vascular prominence. There is a possible widening of the oblique fissure. No definite pleural effusions or Pneumothoraxes
Lines and tubes: There is an enteric tube positioned below the left hemidiaphragm. There are overlying EKG leads in the left first intercostal space and right clavicular region.
Case Discussion
Prenatal genetic testing for this patient revealed an autosomal (chromosome 19) recessive ODAD-1 gene mutation associated with primary ciliary dyskinesia.
Primary ciliary dyskinesia is a genetic condition most commonly resulting from mutations of autosomal recessive genes associated with encoding the design or components of motile cilia. These mutations generate nonfunctional or immotile cilia which can impair embryonic visceral organ ratio leading to situs inversus, impair mucus clearing leading to recurrent sinopulmonary infections culminating in bronchiectasis, and impair translocation/movement of gametes leading to decreased fertility. PCD can clinically present as neonatal respiratory distress syndrome within the first day of life and wrong-sided heart sounds as in the present case. It is symptomatically managed.
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