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Editorials |

Primary Ciliary Dyskinesia and the HeartCilia Breaking Symmetry: Cilia Breaking Symmetry

Marcus P. Kennedy, MD, FCCP; Barry J. Plant, MD
Author and Funding Information

From the Department of Respiratory Medicine, Cork University Hospital.

CORRESPONDENCE TO: Marcus P. Kennedy, MD, FCCP, Cork University Hospital, Wilton, Cork, Republic of Ireland; e-mail: Marcus.kennedy@hse.ie


FINANCIAL/NONFINANCIAL DISCLOSURES: The authors have reported to CHEST that no potential conflicts of interest exist with any companies/organizations whose products or services may be discussed in this article.

Reproduction of this article is prohibited without written permission from the American College of Chest Physicians. See online for more details.


Chest. 2014;146(5):1136-1138. doi:10.1378/chest.14-0722
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The prospective study by Shapiro et al1 in this issue of CHEST (see page 1176) has enhanced our previous knowledge of the incidence of laterality defects, including congenital heart disease (CHD), in patients with primary ciliary dyskinesia (PCD), an inherited, usually autosomal recessive disorder with impaired ciliary function leading to unexplained neonatal respiratory distress, recurrent otitis media, chronic nasal drainage and sinusitis, and chronic bronchitis leading to bronchiectasis.2 The nomenclature for abnormal thoracoabdominal asymmetry varies. In keeping with the article by Shapiro et al,1 this editorial refers to the mirror image of normal as “situs inversus” and any other organ distribution as “situs ambiguus” with combined situs ambiguus and CHD benign referred to as “heterotaxy.” Although traditionally, knowledge of abnormal thoracoabdominal asymmetry is important in trauma and surgery, and patients with asplenia (a subset of heterotaxy) may be at increased risk of infection, it is the cardiovascular defects that lead to morbidity in patients with heterotaxy. Another study looking for ciliary dysfunction in patients with heterotaxic CHD also pointed toward a significant overlap with 18 of 43 patients with heterotaxic CHD (41%) having abnormal ciliary motion and nasal nitric oxide levels below or near the PCD cutoff values.3 Learning points from both these studies are that a PCD-CHD overlap phenotype exists and that we should consider screening for CHD in patients with PCD and for PCD in patients with CHD, especially if they have certain phenotypic features (eg, productive cough and neonatal respiratory compromise in patients with CHD, evidence of heart failure and cardiac murmur in patients with PCD, or relevant family history in either group). However, questions remain, including (1) the precise incidence of this PCD-CHD overlap, (2) why it is more common in animal models of PCD, and (3) how much CHD could be attributed to ciliary dysfunction.

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