The prevalence of clinical features associated with primary ciliary dyskinesia in a heterotaxy population: Results of a web-based survey

Cardiology in the Young

Volumn 25, Issue 4, 2015, Pages 752-759

  Shapiro, Adam J ^a,b   Tolleson Rinehart, Sue ^b   Zariwala, Maimoona A ^b   Knowles, Michael R ^b   Leigh, Margaret W ^b  

^a MONTREAL CHILDREN S HOSPITAL   (Canada)

^b UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

Heterotaxy; laterality defect; primary ciliary dyskinesia

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BRONCHIECTASIS; BRONCHOSCOPY; CHILD; CILIARY DYSKINESIA; CLINICAL EVALUATION; CLINICAL FEATURE; COMORBIDITY; COMPUTER ASSISTED TOMOGRAPHY; DISEASE ASSOCIATION; FEMALE; HEART RIGHT VENTRICLE DOUBLE OUTLET; HETEROTAXY SYNDROME; HUMAN; INTERNET; MAJOR CLINICAL STUDY; MALE; PATIENT REFERRAL; PRESCHOOL CHILD; PREVALENCE; RESPIRATORY TRACT DISEASE; SCHOOL CHILD; SITUS INVERSUS; YOUNG ADULT; AUSTRALIA; CANADA; COMPLICATION; GENETICS; GREAT BRITAIN; HEALTH SURVEY; INFANT; IRELAND; KARTAGENER SYNDROME; MIDDLE AGED; UNITED STATES;

ADOLESCENT; ADULT; AUSTRALIA; CANADA; CHILD; CHILD, PRESCHOOL; FEMALE; GREAT BRITAIN; HEALTH SURVEYS; HETEROTAXY SYNDROME; HUMANS; INFANT; INTERNET; IRELAND; KARTAGENER SYNDROME; MALE; MIDDLE AGED; PREVALENCE; UNITED STATES; YOUNG ADULT;

EID: 84924479063     PISSN: 10479511     EISSN: 14671107     Source Type: Journal    
DOI: 10.1017/S1047951114000912     Document Type: Article

References (34)

1. Knowles MR, Daniels LA, Davis SD, Zariwala MA, Leigh MW. Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med 2013; 188: 913-922.
2. Zariwala MA, Knowles MR, Leigh MW. Primary ciliary dyskinesia. In: Pagon RA, Bird TC, Dolan CR, Stephens K (eds). GeneReviews. University of Washington, Seattle, WA, 2013, [updated 28 February 2013]; 1-59.
3. Katsuhara K, Kawamoto S, Wakabayashi T, Belsky JL. Situs inversus totalis and Kartagener's syndrome in a Japanese population. Chest 1972; 61: 56-61.
4. Torgersen J. Situs inversus, asymmetry, and twinning. Am J Hum Genet 1950; 2: 361-370.
5. Kennedy MP, Omran H, Leigh MW, et al. Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation 2007; 115: 2814-2821.
6. Shapiro AJ, Davis SD, Ferkol T, et al. Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. Chest 2013, in press.
7. Tanaka Y, Okada Y, Hirokawa N. FGF-induced vesicular release of Sonic hedgehog and retinoic acid in leftward nodal flow is critical for left-right determination. Nature 2005; 435: 172-177.
8. Fliegauf M, Benzing T, Omran H. When cilia go bad: cilia defects and ciliopathies. Nat Rev Mol Cell Biol 2007; 8: 880-893.
9. Tan SY, Rosenthal J, Zhao XQ, et al. Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia. J Clin Invest 2007; 117: 3742-3752.
10. Casey B, Cuneo BF, Vitali C, et al. Autosomal dominant transmission of familial laterality defects. Am J Med Genet 1996; 61: 325-328.
11. Ware SM, Peng J, Zhu L, et al. Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet 2004; 74: 93-105.
12. Kaasinen E, Aittomäki K, Eronen M, et al. Recessively inherited right atrial isomerism caused by mutations in growth/ differentiation factor 1 (GDF1). Hum Mol Genet 2010; 19: 2747-2753.
13. De Luca A, Sarkozy A, Consoli F, et al. Familial transposition of the great arteries caused by multiple mutations in laterality genes. Heart 2010; 96: 673-677.
14. Zhu L, Belmont JW, Ware SM. Genetics of human heterotaxias. Eur J Hum Genet 2006; 14: 17-25.
15. Brueckner M. Heterotaxia, congenital heart disease, and primary ciliary dyskinesia. Circulation 2007; 115: 2793-2795.
16. Swisher M, Jonas R, Tian X, et al. Increased postoperative and respiratory complications in patients with congenital heart disease associated with heterotaxy. J Thorac Cardiovasc Surg 2011; 141: 637-644.
17. Mullowney T, Dell S, Manson D, Shah V. Chest X-ray findings distinguish PCD from other causes of term neonatal respiratory distress. Am J Respir Crit Care Med 2013; 187: A2088. (Accessed1 Jul 2013).
18. Shapiro A, Chawla K, Baker B, et al. Clinical symptoms associated with primary ciliary dyskinesia, results of a multi-center study. Am J Respir Crit Care Med 2010; 181: A6728. (Abstract issue).
19. Shapiro A, Chawla K, Knowles M, et al. 2009, Primary ciliary dyskinesia in children with cardiac laterality defects, including heterotaxy. Pediatric Academic Societies' Conference, A4520.4, (Abstract). Retrieved April 1, 2013, from http://www.abstracts2view.com/pasall/view.php?nu=PAS09L1-2671.
20. Shapiro A, Chawla K, Baker B, et al. Nasal nitric oxide and clinical characteristics of patients with heterotaxy: comparison to primary ciliary dyskinesia. Am J Respir Crit Care Med 2011; 183: A1209. (Abstract).
21. Leigh MW, O'Callaghan C, Knowles MR. The challenges of diagnosing primary ciliary dyskinesia. Proc Am Thorac Soc 2011; 8: 434-437.
22. Leigh MW, Hazucha MJ, Chawla KK, et al. Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia. Ann Am Thorac Soc 2013; 10: 574-581.
23. Noone PG, Leigh MW, Sannuti A, et al. Primary ciliary dyskinesia: diagnostic and phenotypic features. Am J Respir Crit Care Med 2004; 169: 459-467.
24. Mateos-Corral D, Coombs R, Grasemann H, et al. Diagnostic value of nasal nitric oxide measured with non-velum closure techniques for children with primary ciliary dyskinesia. J Pediatr 2011; 159: 420-424.
25. Chawla KK, Shapiro A, Hazucha MJ, et al. Nasal nitric oxide during tidal breathing in children under 6 years of age. Am J Respir Crit Care Med 2009; 179: A3673.
26. Olbrich H, Haffner K, Kispert A, et al. Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet 2002; 30: 143-144.
27. Hornef N, Olbrich H, Horvath J, et al. DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med 2006; 174: 120-126.
28. Treggiari MM, Rosenfeld M, Mayer-Hamblett N, et al. Early anti-pseudomonal acquisition in young patients with cystic fibrosis: rationale and design of the EPIC clinical trial and observational study. Contemp Clin Trials 2009; 30: 256-268; Epub 2009 15 January.
29. Kennedy MP, Noone PG, Leigh MW, et al. High-resolution CT of patients with primary ciliary dyskinesia. Am J Roentgenol 2007; 188: 1232-1238.
30. Counil F, Ichay L, Guillaumont S, et al. Association of severe bronchial disease (bronchial casts, bronchiectasis) and partial abnormal pulmonary venous drainage in 2 children with Turner's syndrome. Arch Pediatr 1999; 6: 1070-1074.
31. Bouros D, Pare P, Panagou P, et al. The varied manifestation of pulmonary artery agenesis in adulthood. Chest 1995; 108: 670-676.
32. Nagel BH, Williams H, Stewart L, et al. Splenic state in surviving patients with visceral heterotaxy. Cardiol Young 2005; 15: 469-473. 33.
33. Øyen N, Poulsen G, Boyd HA, Wohlfahrt J, Jensen PK, Melbye M. Recurrence of congenital heart defects in families. Circulation 2009; 120: 295-301.
34. Evans WN. Thoracoabdominal situs: a practical approach accompanied by a short history of descriptive terms. Pediatr Cardiol 2010; 31: 1049-1051.