The prevalence of laterality defects in patients with congenital heart disease

Van Der Bom T, Zomer AC, Zwinderman AH, Meijboom FJ, Bouma BJ, Mulder BJ. The changing epidemiology of congenital heart disease. Nat Rev Cardiol. 2011;8:50–60.

Article  PubMed  Google Scholar 

Van Der Bom T, Bouma BJ, Meijboom FJ, Zwinderman AH, Mulder BJ. The prevalence of adult congenital heart disease, results from a systematic review and evidence based calculation. Am Heart J. 2012;164:568–75.

Article  PubMed  Google Scholar 

Newburger JW, Sleeper LA, Bellinger DC, Goldberg CS, Tabbutt S, Lu M, et al. Early developmental outcome in children with hypoplastic left heart syndrome and related anomalies: the single ventricle reconstruction trial. Circulation. 2012;125:2081–91.

Article  PubMed  PubMed Central  Google Scholar 

Swisher M, Jonas R, Tian X, Lee ES, Lo CW, Leatherbury L. Increased postoperative and respiratory complications in patients with congenital heart disease associated with heterotaxy. J Thorac Cardiovasc Surg. 2011;141:637–44.

Article  PubMed  Google Scholar 

Antony D, et al. Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases. Front Genet. 2022;13:861236.

Noone PG, Leigh MW, Sannuti A, Minnix SL, Carson JL, Hazucha M, et al. Primary ciliary dyskinesia: diagnostic and phenotypic features. Am J Respir Crit Care Med. 2004;169:459–67.

Article  PubMed  Google Scholar 

Kennedy MP, Omran H, Leigh MW, Dell S, Morgan L, Molina PL, et al. Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation. 2007;115:2814–21.

Article  PubMed  Google Scholar 

Shapiro AJ, Davis SD, Ferkol T, Dell SD, Rosenfeld M, Olivier KN, et al. Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. Chest. 2014;146:1176–86.

Article  PubMed  PubMed Central  Google Scholar 

Li Y, Klena NT, Gabriel GC, Liu X, Kim AJ, Lemke K, et al. Global genetic analysis in mice unveils central role for cilia in congenital heart disease. Nature. 2015;521:520–4.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Francis RJ, Christopher A, Devine WA, Ostrowski L, Lo C. Congenital heart disease and the specification of left-right asymmetry. Am J Physiol Heart Circ Physiol. 2012;302:H2102–H11.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Marelli AJ, Mackie AS, Ionescu-Ittu R, Rahme E, Pilote L. Congenital heart disease in the general population: changing prevalence and age distribution. Circulation. 2007;115:163–72.

Article  PubMed  Google Scholar 

Guo T, Tan Z-P, Chen H-M, Zheng DY, Liu L, Huang XG, et al. An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families. Scientific Rep. 2017;7:7905.

Article  Google Scholar 

Zhang W, Li D, Wei S, Guo T, Wang J, Luo H, et al. Correction: Whole-exome sequencing identifies a novel CCDC151 mutation, c.325GT (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus. J Hum Genet. 2019;64:829.

Article  PubMed  Google Scholar 

Alsamri MT, Alabdouli A, Iram D, Alkalbani AM, Almarzooqi AS, Souid AK, et al. A Study on the Genetics of Primary Ciliary Dyskinesia. J Clin Med. 2021;10:5102.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nakhleh N, Francis R, Giese RA, Tian X, Li Y, Zariwala MA, et al. High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. Circulation. 2012;125:2232–42.

Article  PubMed  PubMed Central  Google Scholar 

Lin AE, Ticho BS, Houde K, Westgate MN, Holmes LB. Heterotaxy: associated conditions and hospital-based prevalence in newborns. Genet Med. 2000;2:157–72.

Article  CAS  PubMed  Google Scholar 

Zhu L, Belmont JW, Ware SM. Genetics of human heterotaxias. European J Hum Genet: EJHG. 2006;14:17–25.

Article  CAS  Google Scholar 

Hashmi A, Abu-Sulaiman R, Mccrindle BW, Smallhorn JF, Williams WG, Freedom RM. Management and outcomes of right atrial isomerism: a 26-year experience. J Am Coll Cardiol. 1998;31:1120–6.

Article  CAS  PubMed  Google Scholar 

Taketazu M, Lougheed J, Yoo S-J, Lim JS, Hornberger LK. Spectrum of cardiovascular disease, accuracy of diagnosis, and outcome in fetal heterotaxy syndrome. Am J Cardiol. 2006;97:720–4.

Article  PubMed  Google Scholar 

Gilljam T, Mccrindle BW, Smallhorn JF, Williams WG, Freedom RM. Outcomes of left atrial isomerism over a 28-year period at a single institution. J Am Coll Cardiol. 2000;36:908–16.

Article  CAS  PubMed  Google Scholar 

Bartram U, Wirbelauer J, Speer CP. Heterotaxy syndrome - asplenia and polysplenia as indicators of visceral malposition and complex congenital heart disease. Biol Neonate. 2005;88:278–90.

Article  PubMed  Google Scholar 

Hoffman JIE, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol. 2002;39:1890–900.

Article  PubMed  Google Scholar 

Shiratori H, Hamada H. The left-right axis in the mouse: from origin to morphology. Development (Camb, Engl). 2006;133:2095–104.

Article  CAS  Google Scholar 

Bruneau BG. The developmental genetics of congenital heart disease. Nature. 2008;451:943–8.

Article  CAS  PubMed  Google Scholar 

Bisgrove BW, Morelli SH, Yost HJ. Genetics of human laterality disorders: insights from vertebrate model systems. Annu Rev Genomics Hum Genet. 2003;4:1–32.

Article  CAS  PubMed  Google Scholar 

Ware SM, Peng J, Zhu L, Fernbach S, Colicos S, Casey B, et al. Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. American J Hum Genet. 2004;74:93–105.

Article  CAS  Google Scholar 

Sifrim A, Hitz M-P, Wilsdon A, Breckpot J, Turki SH, Thienpont B, et al. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nature Genet. 2016;48:1060–5.

Article  CAS  PubMed  Google Scholar 

Jin SC, Homsy J, Zaidi S, Lu Q, Morton S, DePalma SR, et al. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nature Genet. 2017;49:1593–601.

Article  CAS  PubMed  Google Scholar 

Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, et al. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science. 2015;350:1262–6.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Snarr BS, O'neal JL, Chintalapudi MR, Wirrig EE, Phelps AL, Kubalak SW, et al. Isl1 expression at the venous pole identifies a novel role for the second heart field in cardiac development. Circulation Res. 2007;101:971–4.

Article  CAS  PubMed  Google Scholar 

Campione M, Ros MA, Icardo JM, Piedra E, Christoffels VM, Schweickert A, et al. Pitx2 expression defines a left cardiac lineage of cells: evidence for atrial and ventricular molecular isomerism in the iv/iv mice. Dev Biol. 2001;231:252–64.

Article  CAS  PubMed  Google Scholar 

Romanowicz J, Sinha P, Donofrio MT, Schidlow DN. Predicting cardiac anatomy, physiology, and surgical management based on fetal echocardiography in heterotaxy syndrome. Am J Perinatol. 2021;40:1081–7.

PubMed  Google Scholar 

Harrison MJ, Shapiro AJ, Kennedy MP. Congenital heart disease and primary ciliary dyskinesia. Paediatr Respir Rev. 2016;18:25–32.

PubMed  Google Scholar 

Williams K, Carson J, Lo C. Genetics of congenital heart disease. Biomolecules. 2019;9:879.

Article  CAS 

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