{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T22:13:33Z","timestamp":1793312013695,"version":"4.5.0"},"reference-count":40,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,11,1]],"date-time":"2018-11-01T00:00:00Z","timestamp":1541030400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,11,1]],"date-time":"2018-11-01T00:00:00Z","timestamp":1541030400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2019,10,22]],"date-time":"2019-10-22T00:00:00Z","timestamp":1571702400000},"content-version":"am","delay-in-days":355,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["K08-HL136839"],"award-info":[{"award-number":["K08-HL136839"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["L40-HL129273"],"award-info":[{"award-number":["L40-HL129273"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["K23-HL127266"],"award-info":[{"award-number":["K23-HL127266"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["L40-HL124303"],"award-info":[{"award-number":["L40-HL124303"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007856","name":"Baylor College of Medicine","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007856","id-type":"DOI","asserted-by":"publisher"}]},{"name":"McCrae Foundation"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jpeds.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Pediatrics"],"published-print":{"date-parts":[[2018,11]]},"DOI":"10.1016\/j.jpeds.2018.07.022","type":"journal-article","created":{"date-parts":[[2018,8,29]],"date-time":"2018-08-29T14:24:13Z","timestamp":1535552653000},"page":"206-211.e2","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"special_numbering":"C","title":["Copy Number Variants of Undetermined Significance Are Not Associated with Worse Clinical Outcomes in Hypoplastic Left Heart Syndrome"],"prefix":"10.1016","volume":"202","author":[{"given":"Andrew L.","family":"Dailey-Schwartz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanna J.","family":"Tadros","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahshid Sababi","family":"Azamian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seema R.","family":"Lalani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8056-0934","authenticated-orcid":false,"given":"Shaine A.","family":"Morris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugh D.","family":"Allen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey J.","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1878-9631","authenticated-orcid":false,"given":"Andrew P.","family":"Landstrom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jpeds.2018.07.022_bib0010","doi-asserted-by":"crossref","first-page":"2254","DOI":"10.1161\/CIRCULATIONAHA.110.947002","article-title":"Mortality resulting from congenital heart disease among children and adults in the United States, 1999 to 2006","volume":"122","author":"Gilboa","year":"2010","journal-title":"Circulation"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0015","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1016\/j.jtcvs.2015.06.071","article-title":"Comparison of in-hospital and longer-term outcomes of hybrid and Norwood stage 1 palliation of hypoplastic left heart syndrome","volume":"150","author":"Malik","year":"2015","journal-title":"J Thorac Cardiovasc Surg"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0020","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1016\/j.jtcvs.2012.05.019","article-title":"Risk factors for hospital morbidity and mortality after the Norwood procedure: a report from the Pediatric Heart Network Single Ventricle Reconstruction trial","volume":"144","author":"Tabbutt","year":"2012","journal-title":"J Thorac Cardiovasc Surg"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0025","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1016\/j.jtcvs.2013.04.006","article-title":"Home monitoring program reduces interstage mortality after the modified Norwood procedure","volume":"147","author":"Siehr","year":"2014","journal-title":"J Thorac Cardiovasc Surg"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0030","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1007\/s00246-004-0776-4","article-title":"Risk factors for interstage death after the Norwood procedure","volume":"26","author":"Simsic","year":"2005","journal-title":"Pediatr Cardiol"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0035","doi-asserted-by":"crossref","first-page":"1358","DOI":"10.1016\/j.jtcvs.2011.04.043","article-title":"The impact of a dedicated single-ventricle home-monitoring program on interstage somatic growth, interstage attrition, and 1-year survival","volume":"142","author":"Petit","year":"2011","journal-title":"J Thorac Cardiovasc Surg"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0040","author":"Texas Children's Hospital"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0045","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1097\/00000658-199609000-00015","article-title":"Staged reconstruction for hypoplastic left heart syndrome: contemporary results","volume":"224","author":"Bove","year":"1996","journal-title":"Ann Surg"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0050","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1161\/CIRCULATIONAHA.109.881904","article-title":"Mortality in first 5 years in infants with functional single ventricle born in Texas, 1996 to 2003","volume":"121","author":"Fixler","year":"2010","journal-title":"Circulation"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0055","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.jpeds.2010.12.054","article-title":"Population-based analysis of survival for hypoplastic left heart syndrome","volume":"159","author":"Hirsch","year":"2011","journal-title":"J Pediatr"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0060","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1016\/j.amjcard.2012.04.050","article-title":"Outcome and resource utilization of infants born with hypoplastic left heart syndrome in the Intermountain West","volume":"110","author":"Menon","year":"2012","journal-title":"Am J Cardiol"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0065","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1016\/j.jtcvs.2005.09.030","article-title":"Current outcomes and risk factors for the Norwood procedure","volume":"131","author":"Stasik","year":"2006","journal-title":"J Thorac Cardiovasc Surg"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0070","doi-asserted-by":"crossref","first-page":"E131","DOI":"10.1111\/chd.12241","article-title":"Current practice and utility of chromosome microarray analysis in infants undergoing cardiac surgery","volume":"10","author":"Buckley","year":"2015","journal-title":"Congenit Heart Dis"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0075","doi-asserted-by":"crossref","first-page":"1127","DOI":"10.1186\/1471-2164-15-1127","article-title":"Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield","volume":"15","author":"Geng","year":"2014","journal-title":"BMC Genomics"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0080","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/ejhg.2013.77","article-title":"Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing","volume":"22","author":"Wiszniewska","year":"2014","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0085","doi-asserted-by":"crossref","first-page":"1326","DOI":"10.1002\/humu.21360","article-title":"Detection of clinically relevant exonic copy-number changes by array CGH","volume":"31","author":"Boone","year":"2010","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0090","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1186\/s13073-017-0472-7","article-title":"Identification of novel candidate disease genes from de novo exonic copy number variants","volume":"9","author":"Gambin","year":"2017","journal-title":"Genome Med"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0095","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1038\/nrg3871","article-title":"A copy number variation map of the human genome","volume":"16","author":"Zarrei","year":"2015","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0100","doi-asserted-by":"crossref","first-page":"1805","DOI":"10.1016\/j.athoracsur.2010.02.004","article-title":"Impact of noncardiac congenital and genetic abnormalities on outcomes in hypoplastic left heart syndrome","volume":"89","author":"Patel","year":"2010","journal-title":"Ann Thorac Surg"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0105","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/S1010-7940(02)00198-7","article-title":"Risk factors for mortality after the Norwood procedure","volume":"22","author":"Gaynor","year":"2002","journal-title":"Eur J Cardiothorac Surg"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0110","doi-asserted-by":"crossref","first-page":"1691","DOI":"10.1016\/j.athoracsur.2008.01.057","article-title":"Management of 239 patients with hypoplastic left heart syndrome and related malformations from 1993 to 2007","volume":"85","author":"Jacobs","year":"2008","journal-title":"Ann Thorac Surg"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0115","doi-asserted-by":"crossref","first-page":"e864","DOI":"10.1542\/peds.2014-1427","article-title":"Survival of children with hypoplastic left heart syndrome","volume":"136","author":"Siffel","year":"2015","journal-title":"Pediatrics"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0120","first-page":"532","article-title":"Outcome of infants with hypoplastic left heart and Turner syndromes","volume":"93","author":"Reis","year":"1999","journal-title":"Obstet Gynecol"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0125","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1111\/chd.12413","article-title":"A population-based analysis of mortality in patients with Turner syndrome and hypoplastic left heart syndrome using the Texas Birth Defects Registry","volume":"12","author":"Lara","year":"2017","journal-title":"Congenit Heart Dis"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0130","doi-asserted-by":"crossref","first-page":"1834","DOI":"10.1016\/j.athoracsur.2015.11.047","article-title":"Survival in children with Down syndrome undergoing single-ventricle palliation","volume":"101","author":"Colquitt","year":"2016","journal-title":"Ann Thorac Surg"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0135","doi-asserted-by":"crossref","first-page":"244.e1","DOI":"10.1016\/j.ajog.2017.10.225","article-title":"Prenatal chromosomal microarray analysis in fetuses with congenital heart disease: a prospective cohort study","volume":"218","author":"Wang","year":"2018","journal-title":"Am J Obstet Gynecol"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0140","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1136\/hrt.79.4.371","article-title":"Outcome after prenatal diagnosis of the hypoplastic left heart syndrome","volume":"79","author":"Allan","year":"1998","journal-title":"Heart"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0145","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCEP.116.004742","article-title":"Interpreting incidentally identified variants in genes associated with catecholaminergic polymorphic ventricular tachycardia in a large cohort of clinical whole-exome genetic test referrals","volume":"10","author":"Landstrom","year":"2017","journal-title":"Circ Arrhythm Electrophysiol"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0150","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1161\/01.RES.0000050585.07097.D7","article-title":"A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill","volume":"92","author":"Groenewegen","year":"2003","journal-title":"Circ Res"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0155","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1016\/j.hrthm.2005.06.032","article-title":"Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms","volume":"2","author":"Makita","year":"2005","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0160","doi-asserted-by":"crossref","first-page":"2677","DOI":"10.1056\/NEJMoa052800","article-title":"Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation","volume":"354","author":"Gollob","year":"2006","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0165","doi-asserted-by":"crossref","first-page":"605","DOI":"10.3892\/ijmm_00000505","article-title":"Connexin40 nonsense mutation in familial atrial fibrillation","volume":"26","author":"Yang","year":"2010","journal-title":"Int J Mol Med"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0170","doi-asserted-by":"crossref","first-page":"1421","DOI":"10.1093\/europace\/euq274","article-title":"Novel connexin40 missense mutations in patients with familial atrial fibrillation","volume":"12","author":"Yang","year":"2010","journal-title":"Europace"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0175","first-page":"603","article-title":"Novel germline GJA5\/connexin40 mutations associated with lone atrial fibrillation impair gap junctional intercellular communication","volume":"34","author":"Sun","year":"2013","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0180","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1161\/01.RES.0000084852.65396.70","article-title":"High incidence of cardiac malformations in connexin40-deficient mice","volume":"93","author":"Gu","year":"2003","journal-title":"Circ Res"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0185","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1067\/mpd.2003.mpd0354","article-title":"Neurologic and developmental morbidity in children with complex congenital heart disease","volume":"142","author":"Wernovsky","year":"2003","journal-title":"J Pediatr"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0190","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1051\/ject\/201244216","article-title":"Improvements in survival and neurodevelopmental outcomes in surgical treatment of hypoplastic left heart syndrome: a meta-analytic review","volume":"44","author":"Sistino","year":"2012","journal-title":"J Extra Corpor Technol"},{"issue":"12 Suppl 1","key":"10.1016\/j.jpeds.2018.07.022_bib0195","first-page":"I109","article-title":"An MRI study of neurological injury before and after congenital heart surgery","volume":"106","author":"Mahle","year":"2002","journal-title":"Circulation"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0200","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1016\/j.ijnurstu.2014.02.003","article-title":"Parental decision-making for medically complex infants and children: an integrated literature review","volume":"51","author":"Allen","year":"2014","journal-title":"Int J Nurs Stud"},{"key":"10.1016\/j.jpeds.2018.07.022_bib0205","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1007\/s00246-009-9514-2","article-title":"Chromosomal anomalies influence parental treatment decisions in relation to prenatally diagnosed congenital heart disease","volume":"30","author":"Zyblewski","year":"2009","journal-title":"Pediatr Cardiol"}],"container-title":["The Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347618309156?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347618309156?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T08:58:46Z","timestamp":1758358726000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022347618309156"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,11]]},"references-count":40,"alternative-id":["S0022347618309156"],"URL":"https:\/\/doi.org\/10.1016\/j.jpeds.2018.07.022","relation":{},"ISSN":["0022-3476"],"issn-type":[{"value":"0022-3476","type":"print"}],"subject":[],"published":{"date-parts":[[2018,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Copy Number Variants of Undetermined Significance Are Not Associated with Worse Clinical Outcomes in Hypoplastic Left Heart Syndrome","name":"articletitle","label":"Article Title"},{"value":"The Journal of Pediatrics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jpeds.2018.07.022","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}