Pulmonary Complications of Heterotaxy Syndromes

Chapter
Part of the Respiratory Medicine book series (RM)

Abstract

Pulmonary diseases among patients with heterotaxy syndrome are caused by a common underlying pathophysiological mechanism of ciliary dysfunction. Cilia are cell membrane-bound organelles which have a wide range of motile functions such as moving cells and extracellular fluid and non-motile functions including sensory interactions with the extracellular environment and signaling. Downstream effects of cilia likely involve a complex interaction of both motile and non-motile functions. Some ciliary genetic defects can cause impaired motility and sensation at the primitive node and abnormal L-R axis determination during embryogenesis, leading to situs inversus totalis or heterotaxy. Abnormal motile cilia on respiratory epithelial cells can compromise mucociliary clearance of airways and sinuses causing primary ciliary dyskinesia (PCD), a disease characterized by chronic coughing, chronic rhinosinusitis, neonatal respiratory distress, and eventual bronchiectasis. Approximately 50% of patients with PCD have laterality defects, but the incidence of PCD and respiratory epithelial ciliary impairment among patients with heterotaxy is not known. Ciliary defects cause a number of additional ciliopathy syndromes affecting the heart, kidneys, eyes, brain, and liver.

Keywords

Heterotaxy Situs inversus Situs ambiguus Kartagener Primary ciliary dyskinesia Cilia Ciliopathy 

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Copyright information

© Springer International Publishing AG 2018

Authors and Affiliations

  1. 1.Division of Pediatric PulmonologyUniversity of MichiganAnn ArborUSA
  2. 2.Pediatric Respiratory MedicineMontréal Children’s Hospital, McGill University Health Centre Research InstituteMontréalCanada

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