{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T07:13:39Z","timestamp":1792826019960,"version":"4.5.0"},"reference-count":110,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,9,9]],"date-time":"2022-09-09T00:00:00Z","timestamp":1662681600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,9,9]],"date-time":"2022-09-09T00:00:00Z","timestamp":1662681600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Heterotaxy (HTX) is a rare condition of abnormal thoraco-abdominal organ arrangement across the left\u2013right axis of the body. The pathogenesis of HTX includes a derangement of the complex signaling at the left\u2013right organizer early in embryogenesis involving motile and non-motile cilia. It can be inherited as a single-gene disorder, a phenotypic feature of a known genetic syndrome or without any clear genetic etiology. Most patients with HTX have complex cardiovascular malformations requiring surgical intervention. Surgical risks are relatively high due to several serious comorbidities often seen in patients with HTX. Asplenia or functional hyposplenism significantly increase the risk for sepsis and therefore require antimicrobial prophylaxis and immediate medical attention with fever. Intestinal rotation abnormalities are common among patients with HTX, although volvulus is rare and surgical correction carries substantial risk. While routine screening for intestinal malrotation is not recommended, providers and families should promptly address symptoms concerning for volvulus and biliary atresia, another serious morbidity more common among patients with HTX. Many patients with HTX have chronic lung disease and should be screened for primary ciliary dyskinesia, a condition of respiratory cilia impairment leading to bronchiectasis. Mental health and neurodevelopmental conditions need to be carefully considered among this population of patients living with a substantial medical burden. Optimal care of children with HTX requires a cohesive team of primary care providers and experienced subspecialists collaborating to provide compassionate, standardized and evidence-based care. In this statement, subspecialty experts experienced in HTX care and research collaborated to provide expert- and evidence-based suggestions addressing the numerous medical issues affecting children living with HTX.<\/jats:p>","DOI":"10.1186\/s13023-022-02515-2","type":"journal-article","created":{"date-parts":[[2022,9,9]],"date-time":"2022-09-09T19:44:17Z","timestamp":1662752657000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":45,"title":["A multi-disciplinary, comprehensive approach to management of children with heterotaxy"],"prefix":"10.1186","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4753-9233","authenticated-orcid":false,"given":"Thomas G.","family":"Saba","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabrielle C.","family":"Geddes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie M.","family":"Ware","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David N.","family":"Schidlow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro J.","family":"del Nido","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathan S.","family":"Rubalcava","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samir K.","family":"Gadepalli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terri","family":"Stillwell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Griffiths","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura M.","family":"Bennett Murphy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew T.","family":"Barber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret W.","family":"Leigh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Necia","family":"Sabin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam J.","family":"Shapiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,9,9]]},"reference":[{"issue":"10","key":"2515_CR1","doi-asserted-by":"publisher","first-page":"2581","DOI":"10.1002\/ajmg.a.36695","volume":"164A","author":"AE Lin","year":"2014","unstructured":"Lin AE, Krikov S, Riehle-Colarusso T, Frias JL, Belmont J, Anderka M, et al. Laterality defects in the national birth defects prevention study (1998\u20132007): birth prevalence and descriptive epidemiology. Am J Med Genet A. 2014;164A(10):2581\u201391.","journal-title":"Am J Med Genet A"},{"issue":"153\u201362","key":"2515_CR2","first-page":"e1","volume":"171","author":"YW Tan","year":"2016","unstructured":"Tan YW, Khalil A, Kakade M, Carvalho JS, Bradley S, Cleeve S, et al. Screening and treatment of intestinal rotational abnormalities in heterotaxy: a systematic review and meta-analysis. J Pediatr. 2016;171(153\u201362):e1-3.","journal-title":"J Pediatr"},{"issue":"5","key":"2515_CR3","doi-asserted-by":"publisher","first-page":"1176","DOI":"10.1378\/chest.13-1704","volume":"146","author":"AJ Shapiro","year":"2014","unstructured":"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(5):1176\u201386.","journal-title":"Chest"},{"issue":"4","key":"2515_CR4","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1002\/uog.14871","volume":"47","author":"I Gottschalk","year":"2016","unstructured":"Gottschalk I, Stressig R, Ritgen J, Herberg U, Breuer J, Vorndamme A, et al. Extracardiac anomalies in prenatally diagnosed heterotaxy syndrome. Ultrasound Obstet Gynecol. 2016;47(4):443\u20139.","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"4","key":"2515_CR5","doi-asserted-by":"publisher","first-page":"1245","DOI":"10.1016\/j.athoracsur.2006.04.082","volume":"82","author":"SJ Kim","year":"2006","unstructured":"Kim SJ, Kim WH, Lim HG, Lee CH, Lee JY. Improving results of the Fontan procedure in patients with heterotaxy syndrome. Ann Thorac Surg. 2006;82(4):1245\u201351.","journal-title":"Ann Thorac Surg"},{"issue":"2","key":"2515_CR6","doi-asserted-by":"publisher","first-page":"e20193345","DOI":"10.1542\/peds.2019-3345","volume":"146","author":"P Banka","year":"2020","unstructured":"Banka P, Adar A, Schaetzle B, Sleeper LA, Emani S, Geva T. Changes in prognosis of heterotaxy syndrome over time. Pediatrics. 2020;146(2):e20193345.","journal-title":"Pediatrics"},{"issue":"7650","key":"2515_CR7","doi-asserted-by":"publisher","first-page":"924","DOI":"10.1136\/bmj.39489.470347.AD","volume":"336","author":"GH Guyatt","year":"2008","unstructured":"Guyatt GH, Oxman AD, Vist GE, Kunz R, Falck-Ytter Y, Alonso-Coello P, et al. GRADE: an emerging consensus on rating quality of evidence and strength of recommendations. BMJ. 2008;336(7650):924\u20136.","journal-title":"BMJ"},{"issue":"Suppl 2","key":"2515_CR8","first-page":"1","volume":"17","author":"JP Jacobs","year":"2007","unstructured":"Jacobs JP, Anderson RH, Weinberg PM, Walters HL 3rd, Tchervenkov CI, Del Duca D, et al. The nomenclature, definition and classification of cardiac structures in the setting of heterotaxy. Cardiol Young. 2007;17(Suppl 2):1\u201328.","journal-title":"Cardiol Young"},{"issue":"Suppl 104","key":"2515_CR9","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1111\/j.1651-2227.1955.tb05346.x","volume":"44","author":"BI Ivemark","year":"1955","unstructured":"Ivemark BI. Implications of agenesis of the spleen on the pathogenesis of conotruncus anomalies in childhood; an analysis of the heart malformations in the splenic agenesis syndrome, with fourteen new cases. Acta Paediatr Suppl (Upps). 1955;44(Suppl 104):7\u2013110.","journal-title":"Acta Paediatr Suppl (Upps)"},{"issue":"2","key":"2515_CR10","doi-asserted-by":"publisher","first-page":"e006917","DOI":"10.1161\/CIRCIMAGING.117.006917","volume":"11","author":"D Yim","year":"2018","unstructured":"Yim D, Nagata H, Lam CZ, Grosse-Wortmann L, Seed M, Jaeggi E, et al. Disharmonious patterns of heterotaxy and isomerism: how often are the classic patterns breached? Circ Cardiovasc Imaging. 2018;11(2):e006917.","journal-title":"Circ Cardiovasc Imaging"},{"issue":"4","key":"2515_CR11","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1002\/ajmg.c.30228","volume":"151C","author":"MJ Sutherland","year":"2009","unstructured":"Sutherland MJ, Ware SM. Disorders of left-right asymmetry: heterotaxy and situs inversus. Am J Med Genet C Semin Med Genet. 2009;151C(4):307\u201317.","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"4","key":"2515_CR12","doi-asserted-by":"publisher","first-page":"563","DOI":"10.1165\/rcmb.2014-0483OC","volume":"53","author":"A Frommer","year":"2015","unstructured":"Frommer A, Hjeij R, Loges NT, Edelbusch C, Jahnke C, Raidt J, et al. Immunofluorescence analysis and diagnosis of primary ciliary dyskinesia with radial spoke defects. Am J Respir Cell Mol Biol. 2015;53(4):563\u201373.","journal-title":"Am J Respir Cell Mol Biol"},{"issue":"1","key":"2515_CR13","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1016\/S0092-8674(03)00511-7","volume":"114","author":"J McGrath","year":"2003","unstructured":"McGrath J, Somlo S, Makova S, Tian X, Brueckner M. Two populations of node monocilia initiate left-right asymmetry in the mouse. Cell. 2003;114(1):61\u201373.","journal-title":"Cell"},{"key":"2515_CR14","doi-asserted-by":"publisher","first-page":"1322","DOI":"10.1038\/ncomms2319","volume":"3","author":"T Nakamura","year":"2012","unstructured":"Nakamura T, Saito D, Kawasumi A, Shinohara K, Asai Y, Takaoka K, et al. Fluid flow and interlinked feedback loops establish left-right asymmetric decay of Cerl2 mRNA. Nat Commun. 2012;3:1322.","journal-title":"Nat Commun"},{"issue":"6578","key":"2515_CR15","doi-asserted-by":"publisher","first-page":"158","DOI":"10.1038\/381158a0","volume":"381","author":"LA Lowe","year":"1996","unstructured":"Lowe LA, Supp DM, Sampath K, Yokoyama T, Wright CV, Potter SS, et al. Conserved left-right asymmetry of nodal expression and alterations in murine situs inversus. Nature. 1996;381(6578):158\u201361.","journal-title":"Nature"},{"issue":"8","key":"2515_CR16","doi-asserted-by":"publisher","first-page":"513","DOI":"10.1046\/j.1365-2443.1997.1400338.x","volume":"2","author":"C Meno","year":"1997","unstructured":"Meno C, Ito Y, Saijoh Y, Matsuda Y, Tashiro K, Kuhara S, et al. Two closely-related left-right asymmetrically expressed genes, lefty-1 and lefty-2: their distinct expression domains, chromosomal linkage and direct neuralizing activity in Xenopus embryos. Genes Cells. 1997;2(8):513\u201324.","journal-title":"Genes Cells"},{"issue":"9","key":"2515_CR17","doi-asserted-by":"publisher","first-page":"616","DOI":"10.1016\/j.tig.2017.06.004","volume":"33","author":"DT Grimes","year":"2017","unstructured":"Grimes DT, Burdine RD. Left-right patterning: breaking symmetry to asymmetric morphogenesis. Trends Genet TIG. 2017;33(9):616\u201328.","journal-title":"Trends Genet TIG"},{"key":"2515_CR18","doi-asserted-by":"publisher","first-page":"101937","DOI":"10.1016\/j.gde.2022.101937","volume":"75","author":"JR Wells","year":"2022","unstructured":"Wells JR, Padua MB, Ware SM. The genetic landscape of cardiovascular left-right patterning defects. Curr Opin Genet Dev. 2022;75:101937.","journal-title":"Curr Opin Genet Dev"},{"issue":"2","key":"2515_CR19","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1016\/j.ydbio.2013.05.011","volume":"380","author":"K Kitajima","year":"2013","unstructured":"Kitajima K, Oki S, Ohkawa Y, Sumi T, Meno C. Wnt signaling regulates left-right axis formation in the node of mouse embryos. Dev Biol. 2013;380(2):222\u201332.","journal-title":"Dev Biol"},{"issue":"14","key":"2515_CR20","doi-asserted-by":"publisher","first-page":"2425","DOI":"10.1242\/dev.018986","volume":"135","author":"N Mine","year":"2008","unstructured":"Mine N, Anderson RM, Klingensmith J. BMP antagonism is required in both the node and lateral plate mesoderm for mammalian left-right axis establishment. Development. 2008;135(14):2425\u201334.","journal-title":"Development"},{"issue":"10","key":"2515_CR21","doi-asserted-by":"publisher","first-page":"1913","DOI":"10.1093\/hmg\/ddt001","volume":"22","author":"MJ Sutherland","year":"2013","unstructured":"Sutherland MJ, Wang S, Quinn ME, Haaning A, Ware SM. Zic3 is required in the migrating primitive streak for node morphogenesis and left-right patterning. Hum Mol Genet. 2013;22(10):1913\u201323.","journal-title":"Hum Mol Genet"},{"key":"2515_CR22","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1007\/978-981-10-7311-3_15","volume":"1046","author":"HM Bellchambers","year":"2018","unstructured":"Bellchambers HM, Ware SM. ZIC3 in heterotaxy. Adv Exp Med Biol. 2018;1046:301\u201327.","journal-title":"Adv Exp Med Biol"},{"issue":"1","key":"2515_CR23","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1002\/ajmg.c.31768","volume":"184","author":"GC Gabriel","year":"2020","unstructured":"Gabriel GC, Lo CW. Left-right patterning in congenital heart disease beyond heterotaxy. Am J Med Genet C Semin Med Genet. 2020;184(1):90\u20136.","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"4","key":"2515_CR24","doi-asserted-by":"publisher","first-page":"563","DOI":"10.1038\/s41431-018-0307-z","volume":"27","author":"AH Li","year":"2019","unstructured":"Li AH, Hanchard NA, Azamian M, D\u2019Alessandro LCA, Coban-Akdemir Z, Lopez KN, et al. Genetic architecture of laterality defects revealed by whole exome sequencing. Eur J Hum Genet. 2019;27(4):563\u201373.","journal-title":"Eur J Hum Genet"},{"issue":"1","key":"2515_CR25","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1086\/380998","volume":"74","author":"SM Ware","year":"2004","unstructured":"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. Am J Hum Genet. 2004;74(1):93\u2013105.","journal-title":"Am J Hum Genet"},{"issue":"1","key":"2515_CR26","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1002\/humu.22457","volume":"35","author":"J Cowan","year":"2014","unstructured":"Cowan J, Tariq M, Ware SM. Genetic and functional analyses of ZIC3 variants in congenital heart disease. Hum Mutat. 2014;35(1):66\u201375.","journal-title":"Hum Mutat"},{"issue":"1","key":"2515_CR27","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1016\/j.clp.2019.10.011","volume":"47","author":"GC Geddes","year":"2020","unstructured":"Geddes GC, Samudrala SS, Earing MG. Neonatal assessment of infants with heterotaxy. Clin Perinatol. 2020;47(1):171\u201382.","journal-title":"Clin Perinatol"},{"issue":"3","key":"2515_CR28","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3892\/ijmm.2021.5009","volume":"48","author":"IO Foc\u0219a","year":"2021","unstructured":"Foc\u0219a IO, Budi\u0219teanu M, B\u0103lgr\u0103dean M. Clinical and genetic heterogeneity of primary ciliopathies (Review). Int J Mol Med. 2021;48(3):1\u20135.","journal-title":"Int J Mol Med"},{"issue":"4","key":"2515_CR29","doi-asserted-by":"publisher","first-page":"616","DOI":"10.1177\/2150135115604470","volume":"6","author":"SA Teele","year":"2015","unstructured":"Teele SA, Jacobs JP, Border WL, Chanani NK. Heterotaxy syndrome: proceedings from the 10th international PCICS meeting. World J Pediatr Congenit Heart Surg. 2015;6(4):616\u201329.","journal-title":"World J Pediatr Congenit Heart Surg"},{"issue":"1","key":"2515_CR30","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1111\/j.1747-0803.2010.00478.x","volume":"6","author":"DB McElhinney","year":"2011","unstructured":"McElhinney DB, Marx GR, Newburger JW. Congenital portosystemic venous connections and other abdominal venous abnormalities in patients with polysplenia and functionally univentricular heart disease: a case series and literature review. Congenit Heart Dis. 2011;6(1):28\u201340.","journal-title":"Congenit Heart Dis"},{"key":"2515_CR31","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1016\/j.ppedcard.2017.06.007","volume":"46","author":"HR Martinez","year":"2017","unstructured":"Martinez HR, Ware SM, Schamberger MS, Parent JJ. Noncompaction cardiomyopathy and heterotaxy syndrome. Prog Pediatr Cardiol. 2017;46:23\u20137.","journal-title":"Prog Pediatr Cardiol"},{"issue":"6","key":"2515_CR32","doi-asserted-by":"publisher","first-page":"906","DOI":"10.1007\/s00246-014-0874-x","volume":"35","author":"MC Escobar-Diaz","year":"2014","unstructured":"Escobar-Diaz MC, Tworetzky W, Friedman K, Lafranchi T, Fynn-Thompson F, Alexander ME, et al. Perinatal outcome in fetuses with heterotaxy syndrome and atrioventricular block or bradycardia. Pediatr Cardiol. 2014;35(6):906\u201313.","journal-title":"Pediatr Cardiol"},{"issue":"4","key":"2515_CR33","doi-asserted-by":"publisher","first-page":"612","DOI":"10.1016\/j.amjcard.2014.05.042","volume":"114","author":"MC Escobar-Diaz","year":"2014","unstructured":"Escobar-Diaz MC, Friedman K, Salem Y, Marx GR, Kalish BT, Lafranchi T, et al. Perinatal and infant outcomes of prenatal diagnosis of heterotaxy syndrome (asplenia and polysplenia). Am J Cardiol. 2014;114(4):612\u20137.","journal-title":"Am J Cardiol"},{"issue":"5","key":"2515_CR34","doi-asserted-by":"publisher","first-page":"e20172607","DOI":"10.1542\/peds.2017-2607","volume":"140","author":"MR Lantin-Hermoso","year":"2017","unstructured":"Lantin-Hermoso MR, Berger S, Bhatt AB, Richerson JE, Morrow R, Freed MD, et al. The care of children with congenital heart disease in their primary medical home. Pediatrics. 2017;140(5):e20172607.","journal-title":"Pediatrics"},{"issue":"21","key":"2515_CR35","doi-asserted-by":"publisher","first-page":"2183","DOI":"10.1161\/01.cir.0000437597.44550.5d","volume":"129","author":"MT Donofrio","year":"2014","unstructured":"Donofrio MT, Moon-Grady AJ, Hornberger LK, Copel JA, Sklansky MS, Abuhamad A, et al. Diagnosis and treatment of fetal cardiac disease: a scientific statement from the American Heart Association. Circulation. 2014;129(21):2183\u2013242.","journal-title":"Circulation"},{"issue":"11","key":"2515_CR36","doi-asserted-by":"publisher","first-page":"1339","DOI":"10.1016\/j.echo.2015.07.005","volume":"28","author":"MT Donofrio","year":"2015","unstructured":"Donofrio MT, Skurow-Todd K, Berger JT, McCarter R, Fulgium A, Krishnan A, et al. Risk-stratified postnatal care of newborns with congenital heart disease determined by fetal echocardiography. J Am Soc Echocardiogr. 2015;28(11):1339\u201349.","journal-title":"J Am Soc Echocardiogr"},{"issue":"2","key":"2515_CR37","doi-asserted-by":"publisher","first-page":"110","DOI":"10.7326\/M20-0299","volume":"173","author":"J Lunyera","year":"2020","unstructured":"Lunyera J, Mohottige D, Alexopoulos AS, Campbell H, Cameron CB, Sagalla N, et al. Risk for nephrogenic systemic fibrosis after exposure to newer gadolinium agents: a systematic review. Ann Intern Med. 2020;173(2):110\u20139.","journal-title":"Ann Intern Med"},{"issue":"3","key":"2515_CR38","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1097\/RTI.0000000000000201","volume":"31","author":"M Sriharan","year":"2016","unstructured":"Sriharan M, Lazoura O, Pavitt CW, Castellano I, Owens CM, Rubens MB, et al. Evaluation of high-pitch ungated pediatric cardiovascular computed tomography for the assessment of cardiac structures in neonates. J Thorac Imaging. 2016;31(3):177\u201382.","journal-title":"J Thorac Imaging"},{"issue":"1","key":"2515_CR39","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1016\/j.xkme.2020.01.001","volume":"2","author":"MS Davenport","year":"2020","unstructured":"Davenport MS, Perazella MA, Yee J, Dillman JR, Fine D, McDonald RJ, et al. Use of intravenous iodinated contrast media in patients with kidney disease: consensus statements from the American College of Radiology and the National Kidney Foundation. Kidney Med. 2020;2(1):85\u201393.","journal-title":"Kidney Med"},{"issue":"8","key":"2515_CR40","doi-asserted-by":"publisher","first-page":"1397","DOI":"10.1007\/s00246-016-1447-y","volume":"37","author":"H Koh","year":"2016","unstructured":"Koh H, Ong CC, Choo YS, Liang CR, Tan GH, Lim TC, et al. Radiation dose and image quality in pediatric cardiac computed tomography: a comparison between sequential and third-generation dual-source high-pitch spiral techniques. Pediatr Cardiol. 2016;37(8):1397\u2013403.","journal-title":"Pediatr Cardiol"},{"issue":"4","key":"2515_CR41","doi-asserted-by":"publisher","first-page":"436","DOI":"10.1161\/CIRCULATIONAHA.118.035223","volume":"138","author":"AC Glatz","year":"2018","unstructured":"Glatz AC, Petit CJ, Goldstein BH, Qureshi AM. Response by Glatz et al to Letter Regarding Article, \u201cComparison Between Patent Ductus Arteriosus Stent and Modified Blalock-Taussig Shunt as Palliation for Infants With Ductal-Dependent Pulmonary Blood Flow: Insights From the Congenital Catheterization Research Collaborative.\u201d Circulation. 2018;138(4):436\u20137.","journal-title":"Circulation"},{"key":"2515_CR42","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1016\/j.xjtc.2021.11.017","volume":"12","author":"EN Feins","year":"2022","unstructured":"Feins EN, O\u2019Leary ET, Hoganson DM, Schulz N, Eickoff E, Davee J, et al. Intraoperative conduction mapping in complex congenital heart surgery. JTCVS Tech. 2022;12:159\u201363.","journal-title":"JTCVS Tech"},{"issue":"6","key":"2515_CR43","doi-asserted-by":"publisher","first-page":"2134","DOI":"10.1016\/j.athoracsur.2015.02.035","volume":"99","author":"MS Khan","year":"2015","unstructured":"Khan MS, Bryant R 3rd, Kim SH, Hill KD, Jacobs JP, Jacobs ML, et al. Contemporary outcomes of surgical repair of total anomalous pulmonary venous connection in patients with heterotaxy syndrome. Ann Thorac Surg. 2015;99(6):2134\u20139 (discussion 9\u201340).","journal-title":"Ann Thorac Surg"},{"issue":"1","key":"2515_CR44","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1016\/j.athoracsur.2014.02.076","volume":"98","author":"VA Sebastian","year":"2014","unstructured":"Sebastian VA, Brenes J, Murthy R, Veeram Reddy S, Dimas VV, Nugent A, et al. Management and outcomes of heterotaxy syndrome associated with pulmonary atresia or pulmonary stenosis. Ann Thorac Surg. 2014;98(1):159\u201366.","journal-title":"Ann Thorac Surg"},{"issue":"2","key":"2515_CR45","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1177\/2150135119893650","volume":"11","author":"AM Alongi","year":"2020","unstructured":"Alongi AM, Kirklin JK, Deng L, Padilla L, Pavnica J, Romp RL, et al. Surgical management of heterotaxy syndrome: current challenges and opportunities. World J Pediatr Congenit Heart Surg. 2020;11(2):166\u201376.","journal-title":"World J Pediatr Congenit Heart Surg"},{"issue":"4","key":"2515_CR46","doi-asserted-by":"publisher","first-page":"596","DOI":"10.1007\/s00246-012-0184-0","volume":"33","author":"MP Eronen","year":"2012","unstructured":"Eronen MP, Aittomaki KA, Kajantie EO, Sairanen HI. Outcome of left atrial isomerism at a single institution. Pediatr Cardiol. 2012;33(4):596\u2013600.","journal-title":"Pediatr Cardiol"},{"issue":"2","key":"2515_CR47","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1007\/s00246-012-0445-y","volume":"34","author":"MP Eronen","year":"2013","unstructured":"Eronen MP, Aittomaki KA, Kajantie EO, Sairanen HI, Pesonen EJ. The outcome of patients with right atrial isomerism is poor. Pediatr Cardiol. 2013;34(2):302\u20137.","journal-title":"Pediatr Cardiol"},{"issue":"5","key":"2515_CR48","doi-asserted-by":"publisher","first-page":"871","DOI":"10.1016\/j.ejcts.2008.12.018","volume":"35","author":"PV Anagnostopoulos","year":"2009","unstructured":"Anagnostopoulos PV, Pearl JM, Octave C, Cohen M, Gruessner A, Wintering E, et al. Improved current era outcomes in patients with heterotaxy syndromes. Eur J Cardiothorac Surg. 2009;35(5):871\u20137 (discussion 7\u20138).","journal-title":"Eur J Cardiothorac Surg"},{"issue":"10","key":"2515_CR49","doi-asserted-by":"publisher","first-page":"1153","DOI":"10.1016\/j.healun.2021.07.008","volume":"40","author":"A Khan","year":"2021","unstructured":"Khan A, Pahl E, Koehl DA, Cantor RS, Kirklin JK, Rusconi P, et al. Improved heart transplant survival for children with congenital heart disease and heterotaxy syndrome in the current era: an analysis from the pediatric heart transplant society. J Heart Lung Transplant. 2021;40(10):1153\u201363.","journal-title":"J Heart Lung Transplant"},{"issue":"1","key":"2515_CR50","doi-asserted-by":"publisher","first-page":"254","DOI":"10.1016\/j.jtcvs.2018.03.111","volume":"156","author":"OO Oladunjoye","year":"2018","unstructured":"Oladunjoye OO, Piekarski B, Banka P, Marx G, Breitbart RE, Del Nido PJ, et al. Staged ventricular recruitment in patients with borderline ventricles and large ventricular septal defects. J Thorac Cardiovasc Surg. 2018;156(1):254\u201364.","journal-title":"J Thorac Cardiovasc Surg"},{"issue":"4","key":"2515_CR51","doi-asserted-by":"publisher","first-page":"1291","DOI":"10.1016\/j.jtcvs.2013.06.018","volume":"147","author":"B Harden","year":"2014","unstructured":"Harden B, Tian X, Giese R, Nakhleh N, Kureshi S, Francis R, et al. Increased postoperative respiratory complications in heterotaxy congenital heart disease patients with respiratory ciliary dysfunction. J Thorac Cardiovasc Surg. 2014;147(4):1291\u20138.","journal-title":"J Thorac Cardiovasc Surg"},{"issue":"2","key":"2515_CR52","doi-asserted-by":"publisher","first-page":"755","DOI":"10.1016\/j.jtcvs.2017.09.050","volume":"155","author":"E Stewart","year":"2018","unstructured":"Stewart E, Adams PS, Tian X, Khalifa O, Wearden P, Zahid M, et al. Airway ciliary dysfunction: association with adverse postoperative outcomes in nonheterotaxy congenital heart disease patients. J Thorac Cardiovasc Surg. 2018;155(2):755\u201363.","journal-title":"J Thorac Cardiovasc Surg"},{"issue":"2","key":"2515_CR53","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1038\/pr.2015.221","volume":"79","author":"SN Chiu","year":"2016","unstructured":"Chiu SN, Shao PL, Wang JK, Hsu HW, Lin MT, Chang LY, et al. Low immunoglobulin M memory B-cell percentage in patients with heterotaxy syndrome correlates with the risk of severe bacterial infection. Pediatr Res. 2016;79(2):271\u20137.","journal-title":"Pediatr Res"},{"issue":"33","key":"2515_CR54","doi-asserted-by":"publisher","first-page":"eaau6085","DOI":"10.1126\/sciimmunol.aau6085","volume":"4","author":"SM Lewis","year":"2019","unstructured":"Lewis SM, Williams A, Eisenbarth SC. Structure and function of the immune system in the spleen. Sci Immunol. 2019;4(33):eaau6085.","journal-title":"Sci Immunol"},{"issue":"6","key":"2515_CR55","doi-asserted-by":"publisher","first-page":"1981","DOI":"10.1016\/j.jaci.2016.10.014","volume":"139","author":"E Piano Mortari","year":"2017","unstructured":"Piano Mortari E, Baban A, Cantarutti N, Bocci C, Adorisio R, Carsetti R. Heterotaxy syndrome with and without spleen: different infection risk and management. J Allergy Clin Immunol. 2017;139(6):1981\u20134.","journal-title":"J Allergy Clin Immunol"},{"issue":"6","key":"2515_CR56","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1111\/chd.12395","volume":"11","author":"RS Loomba","year":"2016","unstructured":"Loomba RS, Geddes GC, Basel D, Benson DW, Leuthner SR, Hehir DA, et al. Bacteremia in patients with heterotaxy: a review and implications for management. Congenit Heart Dis. 2016;11(6):537\u201347.","journal-title":"Congenit Heart Dis"},{"issue":"1","key":"2515_CR57","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1016\/j.jpeds.2013.08.051","volume":"164","author":"SN Chiu","year":"2014","unstructured":"Chiu SN, Shao PL, Wang JK, Chen HC, Lin MT, Chang LY, et al. Severe bacterial infection in patients with heterotaxy syndrome. J Pediatr. 2014;164(1):99\u2013104.","journal-title":"J Pediatr"},{"issue":"2","key":"2515_CR58","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1016\/j.exphem.2006.09.013","volume":"35","author":"VL Harrod","year":"2007","unstructured":"Harrod VL, Howard TA, Zimmerman SA, Dertinger SD, Ware RE. Quantitative analysis of Howell-Jolly bodies in children with sickle cell disease. Exp Hematol. 2007;35(2):179\u201383.","journal-title":"Exp Hematol"},{"issue":"3993","key":"2515_CR59","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1126\/science.173.3993.251","volume":"173","author":"B Schnitzer","year":"1971","unstructured":"Schnitzer B, Rucknagel DL, Spencer HH, Aikawa M. Erythrocytes: pits and vacuoles as seen with transmission and scanning electron microscopy. Science. 1971;173(3993):251\u20132.","journal-title":"Science"},{"issue":"12","key":"2515_CR60","doi-asserted-by":"publisher","first-page":"1465","DOI":"10.1007\/s10096-010-1049-1","volume":"29","author":"AP de Porto","year":"2010","unstructured":"de Porto AP, Lammers AJ, Bennink RJ, ten Berge IJ, Speelman P, Hoekstra JB. Assessment of splenic function. Eur J Clin Microbiol Infect Dis. 2010;29(12):1465\u201373.","journal-title":"Eur J Clin Microbiol Infect Dis"},{"issue":"3","key":"2515_CR61","doi-asserted-by":"publisher","first-page":"187","DOI":"10.4103\/0974-2069.140834","volume":"7","author":"SS Kothari","year":"2014","unstructured":"Kothari SS. Non-cardiac issues in patients with heterotaxy syndrome. Ann Pediatr Cardiol. 2014;7(3):187\u201392.","journal-title":"Ann Pediatr Cardiol"},{"key":"2515_CR62","unstructured":"Asplenia and Adult Vaccination (2016). https:\/\/www.cdc.gov\/vaccines\/adults\/rec-vac\/health-conditions\/asplenia.html."},{"issue":"1","key":"2515_CR63","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1182\/hematology.2020000117","volume":"2020","author":"GM Lee","year":"2020","unstructured":"Lee GM. Preventing infections in children and adults with asplenia. Hematol Am Soc Hematol Educ Program. 2020;2020(1):328\u201335.","journal-title":"Hematol Am Soc Hematol Educ Program"},{"key":"2515_CR64","doi-asserted-by":"publisher","DOI":"10.1542\/9781610025225","volume-title":"Report of the Committee of Infectious Diseases","author":"DWBE Kimberlin","year":"2021","unstructured":"Kimberlin DWBE, Lynfield R, Sawyer MH. Report of the Committee of Infectious Diseases. 32nd ed. Ithasca: American Academy of Pediatrics; 2021.","edition":"32"},{"key":"2515_CR65","doi-asserted-by":"crossref","unstructured":"Yawn GRBaBP. Evidence-based management of sickle cell disease. Expert Panel Report. 2014.","DOI":"10.1001\/jama.2014.10517"},{"issue":"2","key":"2515_CR66","doi-asserted-by":"publisher","first-page":"e000328","DOI":"10.1136\/openhrt-2015-000328","volume":"3","author":"E McGovern","year":"2016","unstructured":"McGovern E, Kelleher E, Potts JE, O\u2019Brien J, Walsh K, Nolke L, et al. Predictors of poor outcome among children with heterotaxy syndrome: a retrospective review. Open Heart. 2016;3(2):e000328.","journal-title":"Open Heart"},{"issue":"6","key":"2515_CR67","doi-asserted-by":"publisher","first-page":"1035","DOI":"10.1542\/peds.2012-2139","volume":"131","author":"MN Baskin","year":"2013","unstructured":"Baskin MN, Goh XL, Heeney MM, Harper MB. Bacteremia risk and outpatient management of febrile patients with sickle cell disease. Pediatrics. 2013;131(6):1035\u201341.","journal-title":"Pediatrics"},{"issue":"6","key":"2515_CR68","doi-asserted-by":"publisher","first-page":"1156","DOI":"10.1097\/SLA.0000000000001563","volume":"264","author":"PS Cullis","year":"2016","unstructured":"Cullis PS, Siminas S, Losty PD. Is screening of intestinal foregut anatomy in heterotaxy patients really necessary? A systematic review in search of the evidence. Ann Surg. 2016;264(6):1156\u201361.","journal-title":"Ann Surg"},{"issue":"2","key":"2515_CR69","doi-asserted-by":"publisher","first-page":"e20174267","DOI":"10.1542\/peds.2017-4267","volume":"142","author":"LM Ryerson","year":"2018","unstructured":"Ryerson LM, Pharis S, Pockett C, Soni R, Fruitman D, Guleserian KJ, et al. Heterotaxy syndrome and intestinal rotation abnormalities. Pediatrics. 2018;142(2):e20174267.","journal-title":"Pediatrics"},{"issue":"1","key":"2515_CR70","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1007\/s00246-012-0385-6","volume":"34","author":"CR Pockett","year":"2013","unstructured":"Pockett CR, Dicken B, Rebeyka IM, Ross DB, Ryerson LM. Heterotaxy syndrome: is a prophylactic Ladd procedure necessary in asymptomatic patients? Pediatr Cardiol. 2013;34(1):59\u201363.","journal-title":"Pediatr Cardiol"},{"issue":"6","key":"2515_CR71","doi-asserted-by":"publisher","first-page":"1089","DOI":"10.1016\/j.jpedsurg.2009.02.015","volume":"44","author":"DC Yu","year":"2009","unstructured":"Yu DC, Thiagarajan RR, Laussen PC, Laussen JP, Jaksic T, Weldon CB. Outcomes after the Ladd procedure in patients with heterotaxy syndrome, congenital heart disease, and intestinal malrotation. J Pediatr Surg. 2009;44(6):1089\u201395 (discussion 95).","journal-title":"J Pediatr Surg"},{"issue":"11","key":"2515_CR72","doi-asserted-by":"publisher","first-page":"1971","DOI":"10.1016\/j.jpedsurg.2015.08.002","volume":"50","author":"R Landisch","year":"2015","unstructured":"Landisch R, Abdel-Hafeez AH, Massoumi R, Christensen M, Shillingford A, Wagner AJ. Observation versus prophylactic Ladd procedure for asymptomatic intestinal rotational abnormalities in heterotaxy syndrome: A systematic review. J Pediatr Surg. 2015;50(11):1971\u20134.","journal-title":"J Pediatr Surg"},{"issue":"12","key":"2515_CR73","doi-asserted-by":"publisher","first-page":"1746","DOI":"10.1016\/j.jpedsurg.2014.09.007","volume":"49","author":"CT Elder","year":"2014","unstructured":"Elder CT, Metzger R, Arrington C, Rollins M, Scaife E. The role of screening and prophylactic surgery for malrotation in heterotaxy patients. J Pediatr Surg. 2014;49(12):1746\u20138.","journal-title":"J Pediatr Surg"},{"issue":"3","key":"2515_CR74","doi-asserted-by":"publisher","first-page":"386","DOI":"10.1016\/j.surg.2010.07.004","volume":"149","author":"D Nehra","year":"2011","unstructured":"Nehra D, Goldstein AM. Intestinal malrotation: varied clinical presentation from infancy through adulthood. Surgery. 2011;149(3):386\u201393.","journal-title":"Surgery"},{"issue":"8","key":"2515_CR75","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1136\/adc.2004.067504","volume":"90","author":"M Choi","year":"2005","unstructured":"Choi M, Borenstein SH, Hornberger L, Langer JC. Heterotaxia syndrome: the role of screening for intestinal rotation abnormalities. Arch Dis Child. 2005;90(8):813\u20135.","journal-title":"Arch Dis Child"},{"issue":"1","key":"2515_CR76","doi-asserted-by":"publisher","first-page":"164","DOI":"10.1016\/j.jpedsurg.2012.10.033","volume":"48","author":"S Papillon","year":"2013","unstructured":"Papillon S, Goodhue CJ, Zmora O, Sharma SS, Wells WJ, Ford HR, et al. Congenital heart disease and heterotaxy: upper gastrointestinal fluoroscopy can be misleading and surgery in an asymptomatic patient is not beneficial. J Pediatr Surg. 2013;48(1):164\u20139.","journal-title":"J Pediatr Surg"},{"issue":"5","key":"2515_CR77","doi-asserted-by":"publisher","first-page":"518","DOI":"10.1007\/s00247-008-0762-8","volume":"38","author":"AW Sizemore","year":"2008","unstructured":"Sizemore AW, Rabbani KZ, Ladd A, Applegate KE. Diagnostic performance of the upper gastrointestinal series in the evaluation of children with clinically suspected malrotation. Pediatr Radiol. 2008;38(5):518\u201328.","journal-title":"Pediatr Radiol"},{"issue":"2","key":"2515_CR78","doi-asserted-by":"publisher","first-page":"210","DOI":"10.1089\/lap.2019.0602","volume":"30","author":"WJ Svetanoff","year":"2020","unstructured":"Svetanoff WJ, Sobrino JA, Sujka JA, St Peter SD, Fraser JD. Laparoscopic Ladd procedure for the management of malrotation and volvulus. J Laparoendosc Adv Surg Tech A. 2020;30(2):210\u20135.","journal-title":"J Laparoendosc Adv Surg Tech A"},{"issue":"4","key":"2515_CR79","doi-asserted-by":"publisher","first-page":"1403","DOI":"10.1016\/j.athoracsur.2012.11.018","volume":"95","author":"MS Sharma","year":"2013","unstructured":"Sharma MS, Guleserian KJ, Forbess JM. Ladd\u2019s procedure in functional single ventricle and heterotaxy syndrome: does timing affect outcome? Ann Thorac Surg. 2013;95(4):1403\u20137 (discussion 7\u20138).","journal-title":"Ann Thorac Surg"},{"issue":"1","key":"2515_CR80","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1016\/j.yapd.2017.03.012","volume":"64","author":"A Sanchez-Valle","year":"2017","unstructured":"Sanchez-Valle A, Kassira N, Varela VC, Radu SC, Paidas C, Kirby RS. Biliary atresia: epidemiology, genetics, clinical update, and public health perspective. Adv Pediatr. 2017;64(1):285\u2013305.","journal-title":"Adv Pediatr"},{"issue":"16","key":"2515_CR81","doi-asserted-by":"publisher","first-page":"2454","DOI":"10.1161\/CIRCULATIONAHA.105.552364","volume":"112","author":"JS Lim","year":"2005","unstructured":"Lim JS, McCrindle BW, Smallhorn JF, Golding F, Caldarone CA, Taketazu M, et al. Clinical features, management, and outcome of children with fetal and postnatal diagnoses of isomerism syndromes. Circulation. 2005;112(16):2454\u201361.","journal-title":"Circulation"},{"issue":"12","key":"2515_CR82","doi-asserted-by":"publisher","first-page":"1289","DOI":"10.1007\/s00383-017-4173-5","volume":"33","author":"M Kasahara","year":"2017","unstructured":"Kasahara M, Umeshita K, Sakamoto S, Fukuda A, Furukawa H, Uemoto S. Liver transplantation for biliary atresia: a systematic review. Pediatr Surg Int. 2017;33(12):1289\u201395.","journal-title":"Pediatr Surg Int"},{"issue":"3","key":"2515_CR83","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1007\/s00383-015-3836-3","volume":"32","author":"A Tyraskis","year":"2016","unstructured":"Tyraskis A, Davenport M. Steroids after the Kasai procedure for biliary atresia: the effect of age at Kasai portoenterostomy. Pediatr Surg Int. 2016;32(3):193\u2013200.","journal-title":"Pediatr Surg Int"},{"issue":"12","key":"2515_CR84","doi-asserted-by":"publisher","first-page":"1141","DOI":"10.1001\/jama.2020.0837","volume":"323","author":"S Harpavat","year":"2020","unstructured":"Harpavat S, Garcia-Prats JA, Anaya C, Brandt ML, Lupo PJ, Finegold MJ, et al. Diagnostic yield of newborn screening for biliary atresia using direct or conjugated bilirubin measurements. JAMA. 2020;323(12):1141\u201350.","journal-title":"JAMA"},{"issue":"4","key":"2515_CR85","doi-asserted-by":"publisher","first-page":"897","DOI":"10.1016\/j.jpeds.2014.12.063","volume":"166","author":"YH Gu","year":"2015","unstructured":"Gu YH, Yokoyama K, Mizuta K, Tsuchioka T, Kudo T, Sasaki H, et al. Stool color card screening for early detection of biliary atresia and long-term native liver survival: a 19-year cohort study in Japan. J Pediatr. 2015;166(4):897\u2013902.","journal-title":"J Pediatr"},{"issue":"8","key":"2515_CR86","doi-asserted-by":"publisher","first-page":"1545","DOI":"10.1007\/s00247-021-05034-7","volume":"51","author":"M Napolitano","year":"2021","unstructured":"Napolitano M, Franchi-Abella S, Damasio BM, Augdal TA, Avni FE, Bruno C, et al. Practical approach for the diagnosis of biliary atresia on imaging, part 2: magnetic resonance cholecystopancreatography, hepatobiliary scintigraphy, percutaneous cholecysto-cholangiography, endoscopic retrograde cholangiopancreatography, percutaneous liver biopsy, risk scores and decisional flowchart. Pediatr Radiol. 2021;51(8):1545\u201354.","journal-title":"Pediatr Radiol"},{"issue":"22","key":"2515_CR87","doi-asserted-by":"publisher","first-page":"2814","DOI":"10.1161\/CIRCULATIONAHA.106.649038","volume":"115","author":"MP Kennedy","year":"2007","unstructured":"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(22):2814\u201321.","journal-title":"Circulation"},{"issue":"2","key":"2515_CR88","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1136\/thoraxjnl-2018-212104","volume":"74","author":"S Best","year":"2019","unstructured":"Best S, Shoemark A, Rubbo B, Patel MP, Fassad MR, Dixon M, et al. Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia. Thorax. 2019;74(2):203\u20135.","journal-title":"Thorax"},{"issue":"4","key":"2515_CR89","doi-asserted-by":"publisher","first-page":"752","DOI":"10.1017\/S1047951114000912","volume":"25","author":"AJ Shapiro","year":"2015","unstructured":"Shapiro AJ, Tolleson-Rinehart S, Zariwala MA, Knowles MR, Leigh MW. The prevalence of clinical features associated with primary ciliary dyskinesia in a heterotaxy population: results of a web-based survey. Cardiol Young. 2015;25(4):752\u20139.","journal-title":"Cardiol Young"},{"issue":"18","key":"2515_CR90","doi-asserted-by":"publisher","first-page":"2232","DOI":"10.1161\/CIRCULATIONAHA.111.079780","volume":"125","author":"N Nakhleh","year":"2012","unstructured":"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(18):2232\u201342.","journal-title":"Circulation"},{"issue":"3","key":"2515_CR91","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1016\/j.jtcvs.2010.07.082","volume":"141","author":"M Swisher","year":"2011","unstructured":"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(3):637\u201344.","journal-title":"J Thorac Cardiovasc Surg"},{"issue":"2","key":"2515_CR92","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1002\/ppul.23304","volume":"51","author":"AJ Shapiro","year":"2016","unstructured":"Shapiro AJ, Zariwala MA, Ferkol T, Davis SD, Sagel SD, Dell SD, et al. Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. Pediatr Pulmonol. 2016;51(2):115\u201332.","journal-title":"Pediatr Pulmonol"},{"issue":"12","key":"2515_CR93","doi-asserted-by":"publisher","first-page":"e24","DOI":"10.1164\/rccm.201805-0819ST","volume":"197","author":"AJ Shapiro","year":"2018","unstructured":"Shapiro AJ, Davis SD, Polineni D, Manion M, Rosenfeld M, Dell SD, et al. Diagnosis of primary ciliary dyskinesia. An official American Thoracic Society Clinical Practice Guideline. Am J Respir Crit Care Med. 2018;197(12):e24\u201339.","journal-title":"Am J Respir Crit Care Med"},{"issue":"9571","key":"2515_CR94","doi-asserted-by":"publisher","first-page":"1481","DOI":"10.1016\/S0140-6736(07)60370-5","volume":"369","author":"SM Sawyer","year":"2007","unstructured":"Sawyer SM, Drew S, Yeo MS, Britto MT. Adolescents with a chronic condition: challenges living, challenges treating. Lancet. 2007;369(9571):1481\u20139.","journal-title":"Lancet"},{"issue":"6","key":"2515_CR95","doi-asserted-by":"publisher","first-page":"960","DOI":"10.1161\/CIRCRESAHA.116.309048","volume":"120","author":"PD Morton","year":"2017","unstructured":"Morton PD, Ishibashi N, Jonas RA. Neurodevelopmental abnormalities and congenital heart disease: insights into altered brain maturation. Circ Res. 2017;120(6):960\u201377.","journal-title":"Circ Res"},{"issue":"5","key":"2515_CR96","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1177\/000992280304200503","volume":"42","author":"KJ Griffin","year":"2003","unstructured":"Griffin KJ, Elkin TD, Smith CJ. Academic outcomes in children with congenital heart disease. Clin Pediatr (Phila). 2003;42(5):401\u20139.","journal-title":"Clin Pediatr (Phila)"},{"issue":"7","key":"2515_CR97","doi-asserted-by":"publisher","first-page":"859","DOI":"10.1080\/09297049.2017.1373758","volume":"24","author":"AR Cassidy","year":"2018","unstructured":"Cassidy AR, Ilardi D, Bowen SR, Hampton LE, Heinrich KP, Loman MM, et al. [Formula: see text]Congenital heart disease: a primer for the pediatric neuropsychologist. Child Neuropsychol. 2018;24(7):859\u2013902.","journal-title":"Child Neuropsychol"},{"issue":"6","key":"2515_CR98","doi-asserted-by":"publisher","first-page":"e014172","DOI":"10.1161\/JAHA.119.014172","volume":"9","author":"KH Marshall","year":"2020","unstructured":"Marshall KH, D\u2019Udekem Y, Sholler GF, Opotowsky AR, Costa DSJ, Sharpe L, et al. Health-related quality of life in children, adolescents, and adults with a fontan circulation: a meta-analysis. J Am Heart Assoc. 2020;9(6):e014172.","journal-title":"J Am Heart Assoc"},{"issue":"3","key":"2515_CR99","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1177\/1474515117728609","volume":"17","author":"HR Huang","year":"2018","unstructured":"Huang HR, Chen CW, Chen CM, Yang HL, Su WJ, Wang JK, et al. A positive perspective of knowledge, attitude, and practices for health-promoting behaviors of adolescents with congenital heart disease. Eur J Cardiovasc Nurs. 2018;17(3):217\u201325.","journal-title":"Eur J Cardiovasc Nurs"},{"issue":"3","key":"2515_CR100","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1016\/j.carpath.2016.01.003","volume":"25","author":"RS Loomba","year":"2016","unstructured":"Loomba RS, Ahmed MM, Spicer DE, Backer CL, Anderson RH. Manifestations of bodily isomerism. Cardiovasc Pathol. 2016;25(3):173\u201380.","journal-title":"Cardiovasc Pathol"},{"issue":"4","key":"2515_CR101","doi-asserted-by":"publisher","first-page":"e482","DOI":"10.1212\/NXG.0000000000000482","volume":"6","author":"EA Robson","year":"2020","unstructured":"Robson EA, Dixon L, Causon L, Dawes W, Benenati M, Fassad M, et al. Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation. Neurol Genet. 2020;6(4):e482.","journal-title":"Neurol Genet"},{"issue":"8","key":"2515_CR102","doi-asserted-by":"publisher","first-page":"521","DOI":"10.1136\/jmedgenet-2016-104425","volume":"54","author":"A Poretti","year":"2017","unstructured":"Poretti A, Snow J, Summers AC, Tekes A, Huisman T, Aygun N, et al. Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause. J Med Genet. 2017;54(8):521\u20139.","journal-title":"J Med Genet"},{"issue":"3","key":"2515_CR103","doi-asserted-by":"publisher","first-page":"536","DOI":"10.1007\/s00246-007-9128-5","volume":"29","author":"SR Foerster","year":"2008","unstructured":"Foerster SR, Gauvreau K, McElhinney DB, Geva T. Importance of totally anomalous pulmonary venous connection and postoperative pulmonary vein stenosis in outcomes of heterotaxy syndrome. Pediatr Cardiol. 2008;29(3):536\u201344.","journal-title":"Pediatr Cardiol"},{"issue":"3","key":"2515_CR104","doi-asserted-by":"publisher","first-page":"1353","DOI":"10.1007\/s00784-020-03443-w","volume":"25","author":"C Dubucs","year":"2021","unstructured":"Dubucs C, Chassaing N, Sergi C, Aubert-Mucca M, Atti\u00e9-Bitach T, Lacombe D, et al. Re-focusing on agnathia-otocephaly complex. Clin Oral Investig. 2021;25(3):1353\u201362.","journal-title":"Clin Oral Investig"},{"key":"2515_CR105","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1016\/j.jpeds.2018.08.068","volume":"204","author":"AJ Olson","year":"2019","unstructured":"Olson AJ, Krentz AD, Finta KM, Okorie UC, Haws RM. Thoraco-abdominal abnormalities in bardet-biedl syndrome: situs inversus and heterotaxy. J Pediatr. 2019;204:31\u20137.","journal-title":"J Pediatr"},{"issue":"4","key":"2515_CR106","doi-asserted-by":"publisher","first-page":"969","DOI":"10.1002\/ajmg.a.38620","volume":"176","author":"H Pinz","year":"2018","unstructured":"Pinz H, Pyle LC, Li D, Izumi K, Skraban C, Tarpinian J, et al. De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies. Am J Med Genet A. 2018;176(4):969\u201372.","journal-title":"Am J Med Genet A"},{"issue":"9","key":"2515_CR107","doi-asserted-by":"publisher","first-page":"1489","DOI":"10.1093\/hmg\/ddaa073","volume":"29","author":"T Harel","year":"2020","unstructured":"Harel T, Griffin JN, Arbogast T, Monroe TO, Palombo F, Martinelli M, et al. Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies. Hum Mol Genet. 2020;29(9):1489\u201397.","journal-title":"Hum Mol Genet"},{"issue":"3","key":"2515_CR108","doi-asserted-by":"publisher","first-page":"820","DOI":"10.1002\/ajmg.a.36362","volume":"164A","author":"AS Victorine","year":"2014","unstructured":"Victorine AS, Weida J, Hines KA, Robinson B, Torres-Martinez W, Weaver DD. Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly. Am J Med Genet A. 2014;164A(3):820\u20133.","journal-title":"Am J Med Genet A"},{"issue":"7","key":"2515_CR109","doi-asserted-by":"publisher","first-page":"977","DOI":"10.1007\/s00246-011-0006-9","volume":"32","author":"CB Hills","year":"2011","unstructured":"Hills CB, Kochilas L, Schimmenti LA, Moller JH. Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. Pediatr Cardiol. 2011;32(7):977\u201382.","journal-title":"Pediatr Cardiol"},{"issue":"5","key":"2515_CR110","doi-asserted-by":"publisher","first-page":"1166","DOI":"10.1002\/ajmg.a.38652","volume":"176","author":"I Ivanovski","year":"2018","unstructured":"Ivanovski I, Akbaroghli S, Pollazzon M, Gelmini C, Caraffi SG, Mansouri M, et al. Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes. Am J Med Genet A. 2018;176(5):1166\u201374.","journal-title":"Am J Med Genet A"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-022-02515-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-022-02515-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-022-02515-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,26]],"date-time":"2023-11-26T20:00:52Z","timestamp":1701028852000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-022-02515-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,9]]},"references-count":110,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,12]]}},"alternative-id":["2515"],"URL":"https:\/\/doi.org\/10.1186\/s13023-022-02515-2","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,9]]},"assertion":[{"value":"8 June 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 September 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 September 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests in this section.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"351"}}