CHEST Guidelines-Response_chest

Response_chest_13 (1)

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This document is a correspondence section from a medical journal discussing the relationship between primary ciliary dyskinesia (PCD), Kartagener Syndrome, and heterotaxy, focusing on embryonic ciliary functions. Jerome M. Reich, MD, highlights the connection between situs inversus and bronchiectasis, conditions observed in Kartagener Syndrome. This syndrome is linked to primary ciliary dyskinesia, affecting ciliary motility and leading to various health issues, including sinusitis, hearing loss, and infertility. Additionally, deficiencies in embryonic ciliary motility can cause situs errors and heterotaxy—a form of lateralization defect affecting organ positioning.<br /><br />The correspondence expresses admiration for recent research defining how cilia determine left-right organ asymmetry and suggests they play a mechanosensory role in cardiac development. The author queries whether this understanding accurately explains Kartagener syndrome's features as an evolutionary adaptation of ciliary motility functions.<br /><br />Adam J. Shapiro, MD, and Margaret W. Leigh, MD, in their response, reaffirm the established connection between motile cilia dysfunction and organ laterality defects, initially identified through animal models. They explore emerging research suggesting that both motile and nonmotile cilia interact through signaling pathways essential for heart and organ development. These pathways might involve sensory or mechanosensory functions of cilia. However, in humans, PCD with organ laterality defects is primarily due to genetic mutations affecting dynein arms, necessary for ciliary motility. Further, they note the presence of laterality defects in other ciliopathies, reinforcing the concept of sensory cilia roles in organ positioning.<br /><br />This dialogue underscores significant advancements in understanding ciliary functions while recognizing ongoing complexities in congenital heart disease and organ laterality research.

Keywords

primary ciliary dyskinesia

Kartagener Syndrome

heterotaxy

ciliary motility

situs inversus

bronchiectasis

organ laterality

dynein arms

congenital heart disease

ciliopathies