{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,18]],"date-time":"2026-01-18T06:57:13Z","timestamp":1768719433726,"version":"3.49.0"},"reference-count":64,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2022,2,26]],"date-time":"2022-02-26T00:00:00Z","timestamp":1645833600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2022,2,26]],"date-time":"2022-02-26T00:00:00Z","timestamp":1645833600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100000968","name":"American Heart Association","doi-asserted-by":"publisher","award":["906513"],"award-info":[{"award-number":["906513"]}],"id":[{"id":"10.13039\/100000968","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007172","name":"Cincinnati Children's Hospital Medical Center","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007172","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["HL135258"],"award-info":[{"award-number":["HL135258"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Curr Cardiol Rep"],"published-print":{"date-parts":[[2022,5]]},"DOI":"10.1007\/s11886-022-01667-8","type":"journal-article","created":{"date-parts":[[2022,2,26]],"date-time":"2022-02-26T11:02:25Z","timestamp":1645873345000},"page":"463-471","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Delving into the Molecular World of Single Ventricle Congenital Heart Disease"],"prefix":"10.1007","volume":"24","author":[{"given":"Zhiyun","family":"Yu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole Min Qian","family":"Pek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7405-8473","authenticated-orcid":false,"given":"Mingxia","family":"Gu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,2,26]]},"reference":[{"key":"1667_CR1","doi-asserted-by":"publisher","first-page":"1890","DOI":"10.1016\/S0735-1097(02)01886-7","volume":"39","author":"JIE Hoffman","year":"2002","unstructured":"Hoffman JIE, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol. 2002;39:1890\u2013900.","journal-title":"J Am Coll Cardiol"},{"key":"1667_CR2","doi-asserted-by":"publisher","first-page":"441","DOI":"10.3390\/children8060441","volume":"8","author":"PS Rao","year":"2021","unstructured":"Rao PS. Single ventricle\u2014a comprehensive review. Children. 2021;8:441.","journal-title":"Children"},{"key":"1667_CR3","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1016\/S1058-9813(02)00042-5","volume":"16","author":"PW O'Leary","year":"2002","unstructured":"O\u2019Leary PW. Prevalence, clinical presentation and natural history of patients with single ventricle. Prog Pediatr Cardiol. 2002;16:31\u20138.","journal-title":"Prog Pediatr Cardiol"},{"issue":"1","key":"1667_CR4","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1111\/apa.16023","volume":"111","author":"E Hedlund","year":"2021","unstructured":"Hedlund E, Lundell B. Fontan circulation has improved life expectancy for infants born with complex heart disease over the last 50 years but has also resulted in significant morbidity. Acta Paediatr. 2021;111(1):11\u20136. https:\/\/doi.org\/10.1111\/apa.16023.","journal-title":"Acta Paediatr"},{"key":"1667_CR5","doi-asserted-by":"publisher","first-page":"923","DOI":"10.1161\/CIRCRESAHA.116.309140","volume":"120","author":"S Zaidi","year":"2017","unstructured":"Zaidi S, Brueckner M. Genetics and genomics of congenital heart disease. Circ Res. 2017;120:923\u201340.","journal-title":"Circ Res"},{"key":"1667_CR6","doi-asserted-by":"crossref","unstructured":"Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, Depalma S, Fakhro KA, Glessner J, Hakonarson H, Italia MJ, Kaltman JR, Kaski J, Kim R, Kline JK, Lee T, Leipzig J, Lopez A, Mane SM, Mitchell LE, Newburger JW, Parfenov M, Pe\u2019Er I, Porter G, Roberts AE, Sachidanandam R, Sanders SJ, Seiden HS, State MW, Subramanian S, Tikhonova IR, Wang W, Warburton D, White PS, Williams IA, Zhao H, Seidman JG, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Seidman CE and Lifton RP. De novo mutations in histone-modifying genes in congenital heart disease. Nature. 2013;498:220\u2013223.","DOI":"10.1038\/nature12141"},{"key":"1667_CR7","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1053\/j.pcsu.2020.03.003","volume":"23","author":"O Toubat","year":"2020","unstructured":"Toubat O, Kumar SR. Molecular approaches in single ventricle management. Seminars in Thoracic and Cardiovascular Surgery: Pediatric Cardiac Surgery Annual. 2020;23:77\u201385.","journal-title":"Seminars in Thoracic and Cardiovascular Surgery: Pediatric Cardiac Surgery Annual"},{"key":"1667_CR8","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1136\/jmg.2008.057984","volume":"45","author":"D Obler","year":"2008","unstructured":"Obler D, Juraszek AL, Smoot LB, Natowicz MR. Double outlet right ventricle: aetiologies and associations. J Med Genet. 2008;45:481\u201397.","journal-title":"J Med Genet"},{"key":"1667_CR9","doi-asserted-by":"crossref","unstructured":"\u2022 Garcia AM, Beatty J-T and Nakano SJ. Heart failure in single right ventricle congenital heart disease: physiological and molecular considerations. Am J Physiol-Heart Circ Physiol. 2020;318:H947-H965.\u00a0This review article provides a detailed and comprehensive overview of the clinical and physiological aspects of SV CHD.","DOI":"10.1152\/ajpheart.00518.2019"},{"key":"1667_CR10","doi-asserted-by":"publisher","first-page":"2064","DOI":"10.1016\/j.athoracsur.2017.04.031","volume":"104","author":"B Alsoufi","year":"2017","unstructured":"Alsoufi B, McCracken C, Kanter K, Shashidharan S, Kogon B. Current results of single ventricle palliation of patients with double inlet left ventricle. Ann Thorac Surg. 2017;104:2064\u201371.","journal-title":"Ann Thorac Surg"},{"key":"1667_CR11","doi-asserted-by":"publisher","first-page":"1212","DOI":"10.1016\/j.athoracsur.2018.11.052","volume":"107","author":"WK Park","year":"2019","unstructured":"Park WK, Baek JS, Kwon BS, Im YM, Lee JH, Choi ES, Park CS, Yun T-J. Revisitation of double-inlet left ventricle or tricuspid atresia with transposed great arteries. Ann Thorac Surg. 2019;107:1212\u20137.","journal-title":"Ann Thorac Surg"},{"key":"1667_CR12","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1007\/s11936-007-0059-5","volume":"9","author":"H Vyas","year":"2007","unstructured":"Vyas H, Hagler DJ. Double inlet left ventricle. Curr Treat Options Cardiovasc Med. 2007;9:391\u20138.","journal-title":"Curr Treat Options Cardiovasc Med"},{"key":"1667_CR13","doi-asserted-by":"publisher","first-page":"4585","DOI":"10.1242\/dev.02597","volume":"133","author":"K Jiao","year":"2006","unstructured":"Jiao K, Langworthy M, Batts L, Brown CB, Moses HL, Baldwin HS. Tgf\u03b2 signaling is required for atrioventricular cushion mesenchyme remodeling during in vivo cardiac development. Development. 2006;133:4585\u201393.","journal-title":"Development"},{"key":"1667_CR14","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1038\/77146","volume":"25","author":"EC Svensson","year":"2000","unstructured":"Svensson EC, Huggins GS, Lin H, Clendenin C, Jiang F, Tufts R, Dardik FB, Leiden JM. A syndrome of tricuspid atresia in mice with a targeted mutation of the gene encoding Fog-2. Nat Genet. 2000;25:353\u20136.","journal-title":"Nat Genet"},{"key":"1667_CR15","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1161\/CIRCRESAHA.111.245035","volume":"109","author":"B Wu","year":"2011","unstructured":"Wu B, Wang Y, Lui W, Langworthy M, Tompkins KL, Hatzopoulos AK, Baldwin HS, Zhou B. Nfatc1 Coordinates valve endocardial cell lineage development required for heart valve formation. Circ Res. 2011;109:183\u201392.","journal-title":"Circ Res"},{"key":"1667_CR16","doi-asserted-by":"crossref","unstructured":"Abdul-Sater Z, Yehya A, Beresian J, Salem E, Kamar A, Baydoun S, Shibbani K, Soubra A, Bitar F and Nemer G. Two Heterozygous Mutations in NFATC1 in a Patient with Tricuspid Atresia. PLoS One. 2012;7:e49532.","DOI":"10.1371\/journal.pone.0049532"},{"key":"1667_CR17","doi-asserted-by":"publisher","unstructured":"Nozari A, Aghaei-Moghadam E, Zeinaloo A, et al. A Pathogenic homozygous mutation in the pleckstrin homology domain of RASA1 is responsible for familial tricuspid atresia in an Iranian consanguineous family. Cell J. 2019;21(1):70\u20137. https:\/\/doi.org\/10.22074\/cellj.2019.5734.","DOI":"10.22074\/cellj.2019.5734"},{"key":"1667_CR18","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1016\/j.ydbio.2010.12.023","volume":"351","author":"T Tsuchihashi","year":"2011","unstructured":"Tsuchihashi T, Maeda J, Shin CH, Ivey KN, Black BL, Olson EN, Yamagishi H, Srivastava D. Hand2 function in second heart field progenitors is essential for cardiogenesis. Dev Biol. 2011;351:62\u20139.","journal-title":"Dev Biol"},{"key":"1667_CR19","doi-asserted-by":"publisher","first-page":"2071","DOI":"10.1016\/j.celrep.2014.11.021","volume":"9","author":"NJ VanDusen","year":"2014","unstructured":"VanDusen NJ, Casanovas J, Vincentz Joshua W, Firulli Beth A, Osterwalder M, Lopez-Rios J, Zeller R, Zhou B, Grego-Bessa J, De La Pompa JL, Shou W, Firulli AB. Hand2 is an essential regulator for two notch-dependent functions within the embryonic endocardium. Cell Rep. 2014;9:2071\u201383.","journal-title":"Cell Rep"},{"key":"1667_CR20","doi-asserted-by":"publisher","first-page":"1605","DOI":"10.1016\/S0960-9822(02)01149-1","volume":"12","author":"J Donovan","year":"2002","unstructured":"Donovan J, Kordylewska A, Jan YN, Utset MF. Tetralogy of Fallot and other congenital heart defects in Hey2 mutant mice. Curr Biol. 2002;12:1605\u201310.","journal-title":"Curr Biol"},{"key":"1667_CR21","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1111\/dgd.12707","volume":"63","author":"D Seya","year":"2021","unstructured":"Seya D, Ihara D, Shirai M, Kawamura T, Watanabe Y, Nakagawa O. A role of Hey2 transcription factor for right ventricle development through regulation of Tbx2-Mycn pathway during cardiac morphogenesis. Dev Growth Differ. 2021;63:82\u201392.","journal-title":"Dev Growth Differ"},{"key":"1667_CR22","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1016\/j.devcel.2010.01.008","volume":"18","author":"Y Tian","year":"2010","unstructured":"Tian Y, Yuan L, Goss AM, Wang T, Yang J, Lepore JJ, Zhou D, Schwartz RJ, Patel V, Cohen ED, Morrisey EE. Characterization and in vivo pharmacological rescue of a Wnt2-Gata6 pathway required for cardiac inflow tract development. Dev Cell. 2010;18:275\u201387.","journal-title":"Dev Cell"},{"key":"1667_CR23","doi-asserted-by":"publisher","first-page":"398","DOI":"10.1161\/CIRCRESAHA.116.304731","volume":"116","author":"BS Gillers","year":"2015","unstructured":"Gillers BS, Chiplunkar A, Aly H, Valenta T, Basler K, Christoffels VM, Efimov IR, Boukens BJ, Rentschler S. Canonical Wnt signaling regulates atrioventricular junction programming and electrophysiological properties. Circ Res. 2015;116:398\u2013406.","journal-title":"Circ Res"},{"key":"1667_CR24","doi-asserted-by":"crossref","unstructured":"Goldmuntz E, Bamford R, Karkera JD, Cruz Jd, Roessler E, Muenke M. CFC1 Mutations in patients with transposition of the great arteries and double-outlet right ventricle. Am J Hum Genet. 2002;70:776\u2013780.","DOI":"10.1086\/339079"},{"key":"1667_CR25","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1089\/dna.2014.2616","volume":"34","author":"R Cao","year":"2015","unstructured":"Cao R, Long F, Wang L, Xu Y, Guo Y, Li F, Chen S, Sun K, Xu R. Duplication and deletion of CFC1 associated with heterotaxy syndrome. DNA Cell Biol. 2015;34:101\u20136.","journal-title":"DNA Cell Biol"},{"key":"1667_CR26","doi-asserted-by":"crossref","unstructured":"Bamford RN, Roessler E, Burdine\u00a0RD, Saplako\u011flu U, Dela Cruz J, Splitt M, Goodship JA, Towbin J, Bowers P, Ferrero GB, Marino B, Schier AF, Shen MM, Muenke M, Casey B. Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nat Genet. 2000;26:365-369.","DOI":"10.1038\/81695"},{"key":"1667_CR27","doi-asserted-by":"publisher","first-page":"695","DOI":"10.1007\/s00246-006-1082-0","volume":"27","author":"C \u00d6zcelik","year":"2006","unstructured":"\u00d6zcelik C, Bit-Avragim N, Panek A, Gaio U, Geier C, Lange PE, Dietz R, Posch MG, Perrot A, Stiller B. Mutations in the EGF-CFC gene cryptic are an infrequent cause of congenital heart disease. Pediatr Cardiol. 2006;27:695\u20138.","journal-title":"Pediatr Cardiol"},{"key":"1667_CR28","doi-asserted-by":"crossref","unstructured":"Desgrange A, Le Garrec J-F, Meilhac SM. Left-right asymmetry in heart development and disease: forming the right loop. Development. 2018;145.","DOI":"10.1242\/dev.162776"},{"key":"1667_CR29","doi-asserted-by":"crossref","unstructured":"\u2022 Yamak A, Hu D, Mittal N, Buikema JW, Ditta S, Lutz PG, Moog-Lutz C, Ellinor PT, Domian IJ. Loss of Asb2 impairs cardiomyocyte differentiation and leads to congenital double outlet right ventricle. iScience. 2020;23:100959. This study is the first to investigate the role of Asb2, a subunit of Cullin5 Ub ligase in the pathogenesis of DORV using Asb2 conditional knockout mice. They showed that Asb2 is critical for cardiac development and Asb2 mutant mice exhibited DORV phenotypes.","DOI":"10.1016\/j.isci.2020.100959"},{"key":"1667_CR30","doi-asserted-by":"crossref","unstructured":"Kasahara H, Lee B, Schott J-J, Benson DW, Seidman JG, Seidman CE, Izumo S. Loss of function and inhibitory effects of human CSX\/NKX2.5 homeoprotein mutations associated with congenital heart disease. J Clin Invest. 2000;106:299\u2013308.","DOI":"10.1172\/JCI9860"},{"key":"1667_CR31","doi-asserted-by":"crossref","unstructured":"McElhinney DB, Geiger E, Blinder J, Woodrow Benson D, Goldmuntz E. NKX2.5mutations in patients with congenital heart disease. J Am Coll Cardiol. 2003;42:1650\u20131655.","DOI":"10.1016\/j.jacc.2003.05.004"},{"key":"1667_CR32","doi-asserted-by":"crossref","unstructured":"Sun Y-M, Wang J, Qiu X-B, Yuan F, Li R-G, Xu Y-J, Qu X-K, Shi H-Y, Hou X-M, Huang R-T, Xue S, Yang Y-Q. A HAND2 loss-of-function mutation causes familial ventricular septal defect and pulmonary stenosis. G3 (Bethesda). 2016;6:987\u2013992.","DOI":"10.1534\/g3.115.026518"},{"key":"1667_CR33","doi-asserted-by":"publisher","first-page":"711","DOI":"10.3892\/ijmm.2017.2865","volume":"39","author":"L Li","year":"2017","unstructured":"Li L, Wang J, Liu X-Y, Liu H, Shi H-Y, Yang X-X, Li N, Li Y-J, Huang R-T, Xue S, Qiu X-B, Yang Y-Q. HAND1 loss-of-function mutation contributes to congenital double outlet right ventricle. Int J Mol Med. 2017;39:711\u20138.","journal-title":"Int J Mol Med"},{"key":"1667_CR34","doi-asserted-by":"publisher","first-page":"1143","DOI":"10.7150\/ijms.21353","volume":"14","author":"X-H Qiao","year":"2017","unstructured":"Qiao X-H, Wang F, Zhang X-L, Huang R-T, Xue S, Wang J, Qiu X-B, Liu X-Y, Yang Y-Q. MEF2C loss-of-function mutation contributes to congenital heart defects. Int J Med Sci. 2017;14:1143\u201353.","journal-title":"Int J Med Sci"},{"key":"1667_CR35","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1186\/s12881-018-0699-1","volume":"19","author":"J Wang","year":"2018","unstructured":"Wang J, Zhang Q, Chen Y, Yu S, Wu X, Bao X, Wen Y. Novel MEF2C point mutations in Chinese patients with Rett (\u2212like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation. BMC Med Genet. 2018;19:191.","journal-title":"BMC Med Genet"},{"key":"1667_CR36","doi-asserted-by":"publisher","first-page":"794","DOI":"10.1007\/s00246-018-1822-y","volume":"39","author":"C-X Lu","year":"2018","unstructured":"Lu C-X, Wang W, Wang Q, Liu X-Y, Yang Y-Q. A Novel MEF2C Loss-of-function mutation associated with congenital double outlet right ventricle. Pediatr Cardiol. 2018;39:794\u2013804.","journal-title":"Pediatr Cardiol"},{"key":"1667_CR37","doi-asserted-by":"crossref","unstructured":"Crucean A, Alqahtani A, Barron DJ, Brawn WJ, Richardson RV, O\u2019Sullivan J, Anderson RH, Henderson DJ, Chaudhry B. Re-evaluation of hypoplastic left heart syndrome from a developmental and morphological perspective. Orphanet J Rare Dis. 2017;12.","DOI":"10.1186\/s13023-017-0683-4"},{"key":"1667_CR38","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1017\/S1047951115001171","volume":"26","author":"CR Cole","year":"2016","unstructured":"Cole CR, Eghtesady P. The myocardial and coronary histopathology and pathogenesis of hypoplastic left heart syndrome. Cardiol Young. 2016;26:19\u201329.","journal-title":"Cardiol Young"},{"key":"1667_CR39","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1016\/S1054-8807(02)00127-8","volume":"12","author":"TJ Bohlmeyer","year":"2003","unstructured":"Bohlmeyer TJ, Helmke S, Ge S, Lynch J, Brodsky G, Sederberg JH, Robertson AD, Minobe W, Bristow MR, Perryman MB. Hypoplastic left heart syndrome myocytes are differentiated but possess a unique phenotype. Cardiovasc Pathol. 2003;12:23\u201331.","journal-title":"Cardiovasc Pathol"},{"key":"1667_CR40","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1080\/14728222.2021.1978069","volume":"25","author":"AT Bejjani","year":"2021","unstructured":"Bejjani AT, Wary N, Gu M. Hypoplastic left heart syndrome (HLHS): molecular pathogenesis and emerging drug targets for cardiac repair and regeneration. Expert Opin Ther Targets. 2021;25:621\u201332.","journal-title":"Expert Opin Ther Targets"},{"key":"1667_CR41","doi-asserted-by":"publisher","first-page":"141","DOI":"10.2174\/1389202916666150303232520","volume":"16","author":"H Lahm","year":"2015","unstructured":"Lahm H, Schon P, Doppler S, Dre\u00dfen M, Cleuziou J, Deutsch M-A, Ewert P, Lange R, Krane M. Tetralogy of Fallot and hypoplastic left heart syndrome \u2013 complex clinical phenotypes meet complex genetic networks. Curr Genomics. 2015;16:141\u201358.","journal-title":"Curr Genomics"},{"key":"1667_CR42","doi-asserted-by":"publisher","first-page":"811","DOI":"10.1038\/ejhg.2008.255","volume":"17","author":"KL McBride","year":"2009","unstructured":"McBride KL, Zender GA, Fitzgerald-Butt SM, Koehler D, Menesses-Diaz A, Fernbach S, Lee K, Towbin JA, Leal S, Belmont JW. Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome). Eur J Hum Genet. 2009;17:811\u20139.","journal-title":"Eur J Hum Genet"},{"key":"1667_CR43","doi-asserted-by":"publisher","first-page":"757","DOI":"10.1007\/s00246-012-0208-9","volume":"33","author":"AR Payne","year":"2012","unstructured":"Payne AR, Chang S-W, Koenig SN, Zinn AR, Garg V. Submicroscopic chromosomal copy number variations identified in children with hypoplastic left heart syndrome. Pediatr Cardiol. 2012;33:757\u201363.","journal-title":"Pediatr Cardiol"},{"key":"1667_CR44","doi-asserted-by":"crossref","unstructured":"Cheng A, Neufeld-Kaiser W, Byers PH, Liu YJ. 6q25.1 (TAB2) microdeletion is a risk factor for hypoplastic left heart: a case report that expands the phenotype. BMC Cardiovasc Disord. 2020;20.","DOI":"10.1186\/s12872-020-01404-5"},{"key":"1667_CR45","doi-asserted-by":"crossref","unstructured":"Huseynova R, Bin Mahmoud L, Alshenqiti A, Alomran K, Alodaidan N and Huseynov O. A Rare Combination of Chromosomal Abnormalities in an Infant With Turner Syndrome and Hypoplastic Left Heart Syndrome. Cureus. 2021 July 20;13(7):e16500.\u00a0https:\/\/doi.org\/10.7759\/cureus.16500.","DOI":"10.7759\/cureus.16500"},{"key":"1667_CR46","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1016\/j.yjmcc.2019.08.005","volume":"135","author":"A Saraf","year":"2019","unstructured":"Saraf A, Book WM, Nelson TJ, Xu C. Hypoplastic left heart syndrome: from bedside to bench and back. J Mol Cell Cardiol. 2019;135:109\u201318.","journal-title":"J Mol Cell Cardiol"},{"key":"1667_CR47","doi-asserted-by":"publisher","first-page":"1232","DOI":"10.1007\/s00246-017-1650-5","volume":"38","author":"MD Durbin","year":"2017","unstructured":"Durbin MD, Cadar AG, Williams CH, Guo Y, Bichell DP, Su YR, Hong CC. Hypoplastic left heart syndrome sequencing reveals a novel NOTCH1 mutation in a family with single ventricle defects. Pediatr Cardiol. 2017;38:1232\u201340.","journal-title":"Pediatr Cardiol"},{"key":"1667_CR48","doi-asserted-by":"publisher","first-page":"1003","DOI":"10.1007\/s00439-015-1582-1","volume":"134","author":"JL Theis","year":"2015","unstructured":"Theis JL, Hrstka SCL, Evans JM, O\u2019Byrne MM, De Andrade M, O\u2019Leary PW, Nelson TJ, Olson TM. Compound heterozygous NOTCH1 mutations underlie impaired cardiogenesis in a patient with hypoplastic left heart syndrome. Hum Genet. 2015;134:1003\u201311.","journal-title":"Hum Genet"},{"key":"1667_CR49","doi-asserted-by":"publisher","first-page":"912","DOI":"10.1152\/physiolgenomics.00091.2016","volume":"48","author":"A Tomita-Mitchell","year":"2016","unstructured":"Tomita-Mitchell A, Stamm KD, Mahnke DK, Kim M-S, Hidestrand PM, Liang HL, Goetsch MA, Hidestrand M, Simpson P, Pelech AN, Tweddell JS, Benson DW, Lough JW, Mitchell ME. Impact of MYH6 variants in hypoplastic left heart syndrome. Physiol Genomics. 2016;48:912\u201321.","journal-title":"Physiol Genomics"},{"key":"1667_CR50","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1016\/S0027-5107(01)00160-9","volume":"479","author":"C Dasgupta","year":"2001","unstructured":"Dasgupta C, Martinez A-M, Zuppan CW, Shah MM, Bailey LL, Fletcher WH. Identification of connexin43 (\u03b11) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). Mutation Research\/Fundamental and Molecular Mechanisms of Mutagenesis. 2001;479:173\u201386.","journal-title":"Mutation Research\/Fundamental and Molecular Mechanisms of Mutagenesis"},{"key":"1667_CR51","doi-asserted-by":"publisher","first-page":"542","DOI":"10.1111\/j.1399-0004.2011.01674.x","volume":"81","author":"M Iascone","year":"2012","unstructured":"Iascone M, Ciccone R, Galletti L, Marchetti D, Seddio F, Lincesso A, Pezzoli L, Vetro A, Barachetti D, Boni L, Federici D, Soto A, Comas J, Ferrazzi P, Zuffardi O. Identification of de novo mutations and rare variants in hypoplastic left heart syndrome. Clin Genet. 2012;81:542\u201354.","journal-title":"Clin Genet"},{"key":"1667_CR52","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1002\/uog.21883","volume":"56","author":"H Sun","year":"2020","unstructured":"Sun H, Yi T, Hao X, Yan H, Wang J, Li Q, Gu X, Zhou X, Wang S, Wang X, Wan P, Han L, Chen J, Zhu H, Zhang H, He Y. Contribution of single-gene defects to congenital cardiac left-sided lesions in the prenatal setting. Ultrasound Obstet Gynecol. 2020;56:225\u201332.","journal-title":"Ultrasound Obstet Gynecol"},{"key":"1667_CR53","doi-asserted-by":"publisher","first-page":"1152","DOI":"10.1038\/ng.3870","volume":"49","author":"X Liu","year":"2017","unstructured":"Liu X, Yagi H, Saeed S, Bais AS, Gabriel GC, Chen Z, Peterson KA, Li Y, Schwartz MC, Reynolds WT, Saydmohammed M, Gibbs B, Wu Y, Devine W, Chatterjee B, Klena NT, Kostka D, De Mesy Bentley KL, Ganapathiraju MK, Dexheimer P, Leatherbury L, Khalifa O, Bhagat A, Zahid M, Pu W, Watkins S, Grossfeld P, Murray SA, Porter GA, Tsang M, Martin LJ, Benson DW, Aronow BJ, Lo CW. The complex genetics of hypoplastic left heart syndrome. Nat Genet. 2017;49:1152\u20139.","journal-title":"Nat Genet"},{"key":"1667_CR54","doi-asserted-by":"publisher","first-page":"1169","DOI":"10.1161\/CIRCRESAHA.108.174318","volume":"102","author":"K Niessen","year":"2008","unstructured":"Niessen K, Karsan A. Notch signaling in cardiac development. Circ Res. 2008;102:1169\u201381.","journal-title":"Circ Res"},{"key":"1667_CR55","doi-asserted-by":"publisher","first-page":"1106","DOI":"10.1002\/stem.2582","volume":"35","author":"SCL Hrstka","year":"2017","unstructured":"Hrstka SCL, Li X, Nelson TJ. NOTCH1-dependent nitric oxide signaling deficiency in hypoplastic left heart syndrome revealed through patient-specific phenotypes detected in bioengineered cardiogenesis. STEM CELLS. 2017;35:1106\u201319.","journal-title":"STEM CELLS"},{"key":"1667_CR56","doi-asserted-by":"publisher","first-page":"2345","DOI":"10.1161\/01.CIR.101.20.2345","volume":"101","author":"TC Lee","year":"2000","unstructured":"Lee TC, Zhao YD, Courtman DW, Stewart DJ. Abnormal aortic valve development in mice lacking endothelial nitric oxide synthase. Circulation. 2000;101:2345\u20138.","journal-title":"Circulation"},{"key":"1667_CR57","doi-asserted-by":"publisher","first-page":"843","DOI":"10.1016\/j.jacc.2008.05.043","volume":"52","author":"JD Miller","year":"2008","unstructured":"Miller JD, Chu Y, Brooks RM, Richenbacher WE, Pe\u00f1a-Silva R, Heistad DD. Dysregulation of antioxidant mechanisms contributes to increased oxidative stress in calcific aortic valvular stenosis in humans. J Am Coll Cardiol. 2008;52:843\u201350.","journal-title":"J Am Coll Cardiol"},{"key":"1667_CR58","doi-asserted-by":"crossref","unstructured":"Yang C, Xu Y, Yu M, Lee D, Alharti S, Hellen N, Ahmad Shaik N, Banaganapalli B, Sheikh Ali Mohamoud H, Elango R, Przyborski S, Tenin G, Williams S, O\u2019Sullivan J, Al-Radi OO, Atta J, Harding SE, Keavney B, Lako M, Armstrong L. Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesis. Hum Mol Genet. 2017;26:3031\u20133045.","DOI":"10.1093\/hmg\/ddx140"},{"key":"1667_CR59","doi-asserted-by":"publisher","first-page":"416","DOI":"10.5966\/sctm.2013-0105","volume":"3","author":"Y Jiang","year":"2014","unstructured":"Jiang Y, Habibollah S, Tilgner K, Collin J, Barta T, Al-Aama JY, Tesarov L, Hussain R, Trafford AW, Kirkwood G, Sernagor E, Eleftheriou CG, Przyborski S, Stojkovi\u0107 M, Lako M, Keavney B, Armstrong L. An induced pluripotent stem cell Model of hypoplastic left heart syndrome (HLHS) reveals multiple expression and functional differences in HLHS-derived cardiac myocytes. Stem Cells Transl Med. 2014;3:416\u201323.","journal-title":"Stem Cells Transl Med"},{"key":"1667_CR60","doi-asserted-by":"crossref","unstructured":"Theis JL, Vogler G, Missinato MA, Li X, Nielsen T, Zeng X-XI, Martinez-Fernandez A, Walls SM, Kervadec A, Kezos JN, Birker K, Evans JM, O'Byrne MM, Fogarty ZC, Terzic A, Grossfeld P, Ocorr K, Nelson TJ, Olson TM, Colas AR and Bodmer R. Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome. eLife. 2020;9.","DOI":"10.7554\/eLife.59554"},{"key":"1667_CR61","doi-asserted-by":"crossref","unstructured":"Theis JL, Hu JJ, Sundsbak RS, Evans JM, Bamlet WR, Qureshi MY, O\u2019Leary PW, Olson TM. Genetic association between hypoplastic left heart syndrome and cardiomyopathies. Circ Genom Precis Med. 2021;14.","DOI":"10.1161\/CIRCGEN.120.003126"},{"key":"1667_CR62","doi-asserted-by":"crossref","unstructured":"\u2022 Krane M, Dre\u00dfen M, Santamaria G, My I, Schneider CM, Dorn T, Laue S, Mastantuono E, Berutti R, Rawat H, Gilsbach R, Schneider P, Lahm H, Schwarz S, Doppler SA, Paige S, Puluca N, Doll S, Neb I, Brade T, Zhang Z, Abou-Ajram C, Northoff B, Holdt LM, Sudhop S, Sahara M, Goedel A, Dendorfer A, Tjong FVY, Rijlaarsdam ME, Cleuziou J, Lang N, Kupatt C, Bezzina C, Lange R, Bowles NE, Mann M, Gelb BD, Crotti L, Hein L, Meitinger T, Wu S, Sinnecker D, Gruber PJ, Laugwitz K-L, Moretti A. Sequential defects in cardiac lineage commitment and maturation cause hypoplastic left heart syndrome. Circulation. 2021;144:1409\u20131428. This study suggested the altered genetic and transcriptomic programs converged on sequential cellular process noted as premature cell cycle exit and impaired cardiac myogenesis, which lead to the left ventricle hypoplasia in HLHS.","DOI":"10.1161\/CIRCULATIONAHA.121.056198"},{"key":"1667_CR63","doi-asserted-by":"publisher","first-page":"574","DOI":"10.1016\/j.stem.2020.07.015","volume":"27","author":"Y Miao","year":"2020","unstructured":"Miao Y, Tian L, Martin M, Paige SL, Galdos FX, Li J, Klein A, Zhang H, Ma N, Wei Y, Stewart M, Lee S, Moonen J-R, Zhang B, Grossfeld P, Mital S, Chitayat D, Wu JC, Rabinovitch M, Nelson TJ, Nie S, Wu SM, Gu M. Intrinsic endocardial defects contribute to hypoplastic left heart syndrome. Cell Stem Cell. 2020;27:574-589.e8.","journal-title":"Cell Stem Cell"},{"key":"1667_CR64","doi-asserted-by":"crossref","unstructured":"Qiao XH, Wang Q, Wang J, et al. A novel NR2F2 loss-of-function mutation predisposes to congenital heart defect. Eur J Med Genet. 2018;61(4):197-203.\u00a0https:\/\/doi.org\/10.1016\/j.ejmg.2017.12.003.","DOI":"10.1016\/j.ejmg.2017.12.003"}],"container-title":["Current Cardiology Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11886-022-01667-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s11886-022-01667-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11886-022-01667-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,5,4]],"date-time":"2022-05-04T14:20:13Z","timestamp":1651674013000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s11886-022-01667-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,26]]},"references-count":64,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2022,5]]}},"alternative-id":["1667"],"URL":"https:\/\/doi.org\/10.1007\/s11886-022-01667-8","relation":{},"ISSN":["1523-3782","1534-3170"],"issn-type":[{"value":"1523-3782","type":"print"},{"value":"1534-3170","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2,26]]},"assertion":[{"value":"20 January 2022","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 February 2022","order":2,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}},{"value":"This article does not contain any studies with human or animal subjects performed by any of the authors.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Human and Animal Rights and Informed Consent"}}]}}