Going beyond the chest X‐ray: Investigating laterality defects in primary ciliary dyskinesia

Organ laterality defects in primary ciliary dyskinesia (PCD) are common, ranging from complete mirror image organ arrangement, situs inversus totalis (SIT), to situs ambiguus (SA), which falls along the spectrum of situs solitus (SS) and SIT. Targeted investigations for organ laterality defects are not universally recommended in PCD consensus statements. Without investigations beyond chest radiography (CXR), clinically significant defects may go undetected leading to increased morbidity. We hypothesize that clinically significant SA defects remain undetected on CXR and targeted investigations are needed to detect various laterality defects associated with morbidity.

[1]  H. Omran,et al.  International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria) , 2019, European Respiratory Journal.

[2]  Low-dose computed tomography instead of radiography in suspected pneumonia , 2019, Breathe.

[3]  M. Rosenfeld,et al.  Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype , 2019, American journal of respiratory and critical care medicine.

[4]  R. Pengelly,et al.  Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia , 2018, Thorax.

[5]  M. Rosenfeld,et al.  Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline , 2018, American journal of respiratory and critical care medicine.

[6]  P. Losty,et al.  Is Screening of Intestinal Foregut Anatomy in Heterotaxy Patients Really Necessary?: A Systematic Review in Search of the Evidence , 2016, Annals of surgery.

[7]  M. Rosenfeld,et al.  Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents. , 2016, Annals of the American Thoracic Society.

[8]  D. Wesson,et al.  Evaluating a management strategy for malrotation in heterotaxy patients. , 2016, Journal of pediatric surgery.

[9]  M. Rosenfeld,et al.  Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review , 2015, Pediatric pulmonology.

[10]  M. Rosenfeld,et al.  Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. , 2014, Chest.

[11]  U. Rüther,et al.  The Ciliary Protein Ftm Is Required for Ventricular Wall and Septal Development , 2013, PloS one.

[12]  M. Hurles,et al.  Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. , 2012, American journal of human genetics.

[13]  L. Ostrowski,et al.  Congenital heart disease and the specification of left-right asymmetry. , 2012, American journal of physiology. Heart and circulatory physiology.

[14]  P. Speelman,et al.  Assessment of splenic function , 2010, European Journal of Clinical Microbiology & Infectious Diseases.

[15]  W. Evans.  Thoracoabdominal Situs: A Practical Approach Accompanied by a Short History of Descriptive Terms , 2010, Pediatric Cardiology.

[16]  H. Omran,et al.  Congenital Heart Disease and Other Heterotaxic Defects in a Large Cohort of Patients With Primary Ciliary Dyskinesia , 2007, Circulation.

[17]  F. Macartney,et al.  Nomenclature and classification of congenital heart disease. , 1979, British heart journal.

[18]  B. Afzelius.  A human syndrome caused by immotile cilia. , 1976, Science.

[19]  R. D. Rowe,et al.  Howell-Jolly bodies in the peripheral blood of full-term and premature neonates. , 1973, The Johns Hopkins medical journal.