Pulmonary arteriovenous malformations leading to hypoxemia in child with primary ciliary dyskinesia

Abstract Primary ciliary dyskinesia (PCD) is a rare genetic condition characterized by respiratory tract infections, situs inversus or heterotaxy, and male infertility. Chronic respiratory infections begin in childhood and result in complications such as bronchiectasis. As hypoxemia is often attributed to bronchiectasis, other etiologies for desaturation in this setting are not routinely evaluated. The development of pulmonary arteriovenous malformations (PAVMs) in PCD is not an established association. PAVMs as the etiology for hypoxemia may have been overlooked due to the lack of awareness of this rare association. We present a child with diagnosis of PCD with significant hypoxemia in the absence of bronchiectasis, found to have diffuse bilateral PAVMs and discuss possible physiopathologic mechanisms.