{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T05:05:27Z","timestamp":1764133527412,"version":"3.40.5"},"reference-count":30,"publisher":"Cambridge University Press (CUP)","issue":"12","license":[{"start":{"date-parts":[[2022,2,9]],"date-time":"2022-02-09T00:00:00Z","timestamp":1644364800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["cambridge.org"],"crossmark-restriction":true},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec id=\"S1047951122000166_as1\"><jats:title>Background:<\/jats:title><jats:p>Hypoplastic left heart syndrome and single ventricle variants with aortic hypoplasia are commonly classified as severe forms of CHD. We hypothesised patients with these severe defects and reported genetic abnormalities have increased morbidity and mortality during the interstage period.<\/jats:p><\/jats:sec><jats:sec id=\"S1047951122000166_as2\"><jats:title>Methods and Results:<\/jats:title><jats:p>This was a retrospective review of the National Pediatric Cardiology Quality Improvement Collaborative Phase I registry. Three patient groups were identified: major syndromes, other genetic abnormalities, and no reported genetic abnormality. Tukey post hoc test was applied for pairwise group comparisons of length of stay, death, and combined outcome of death, not a candidate for stage 2 palliation, and heart transplant. Participating centres received a survey to establish genetic testing and reporting practices. Of the 2182 patients, 110 (5%) had major genetic syndromes, 126 (6%) had other genetic abnormalities, and 1946 (89%) had no genetic abnormality. Those with major genetic syndromes weighed less at birth and stage 1 palliation. Patients with no reported genetic abnormalities reached full oral feeds sooner and discharged earlier. The combined outcome of death, not a candidate for stage 2 palliation, and heart transplant was more common in those with major syndromes. Survey response was low (n = 23, 38%) with only 14 (61%) routinely performing and reporting genetic testing.<\/jats:p><\/jats:sec><jats:sec id=\"S1047951122000166_as3\"><jats:title>Conclusions:<\/jats:title><jats:p>Patients with genetic abnormalities experienced greater morbidity and mortality during the interstage period than those with no reported genetic abnormalities. Genetic testing and reporting practices vary significantly between participating centres.<\/jats:p><\/jats:sec>","DOI":"10.1017\/s1047951122000166","type":"journal-article","created":{"date-parts":[[2022,2,9]],"date-time":"2022-02-09T10:41:48Z","timestamp":1644403308000},"page":"1999-2004","update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":1,"title":["Increased interstage morbidity and mortality following stage 1 palliation in patients with genetic abnormalities"],"prefix":"10.1017","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6875-3621","authenticated-orcid":false,"given":"Alyson R.","family":"Pierick","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Trudy A.","family":"Pierick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas D.","family":"Scholz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. Bridget","family":"Zimmerman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0571-0928","authenticated-orcid":false,"given":"Benjamin E.","family":"Reinking","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2022,2,9]]},"reference":[{"key":"S1047951122000166_ref25","doi-asserted-by":"publisher","DOI":"10.1093\/icvts\/ivab073"},{"key":"S1047951122000166_ref27","doi-asserted-by":"publisher","DOI":"10.1111\/chd.12413"},{"key":"S1047951122000166_ref8","doi-asserted-by":"publisher","DOI":"10.1038\/s41372-018-0136-5"},{"key":"S1047951122000166_ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.11.003"},{"key":"S1047951122000166_ref4","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5117"},{"key":"S1047951122000166_ref23","doi-asserted-by":"publisher","DOI":"10.1016\/j.jtcvs.2012.05.019"},{"key":"S1047951122000166_ref26","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951113000127"},{"key":"S1047951122000166_ref30","doi-asserted-by":"publisher","DOI":"10.1016\/j.jtcvs.2016.08.021"},{"key":"S1047951122000166_ref2","doi-asserted-by":"publisher","DOI":"10.1161\/JAHA.120.016889"},{"key":"S1047951122000166_ref12","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-017-0475-7"},{"key":"S1047951122000166_ref18","doi-asserted-by":"publisher","DOI":"10.1111\/chd.12177"},{"key":"S1047951122000166_ref9","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2018-0185"},{"key":"S1047951122000166_ref1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0912461"},{"key":"S1047951122000166_ref22","doi-asserted-by":"publisher","DOI":"10.1111\/chd.12390"},{"key":"S1047951122000166_ref3","doi-asserted-by":"publisher","DOI":"10.1161\/CIR.0000000000000606"},{"key":"S1047951122000166_ref29","doi-asserted-by":"publisher","DOI":"10.1111\/chd.12649"},{"key":"S1047951122000166_ref28","doi-asserted-by":"publisher","DOI":"10.1016\/j.athoracsur.2019.06.061"},{"key":"S1047951122000166_ref17","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951111001600"},{"key":"S1047951122000166_ref24","doi-asserted-by":"publisher","DOI":"10.1016\/j.athoracsur.2016.12.031"},{"key":"S1047951122000166_ref16","doi-asserted-by":"publisher","DOI":"10.1159\/000490425"},{"key":"S1047951122000166_ref6","doi-asserted-by":"publisher","DOI":"10.1111\/chd.12112"},{"key":"S1047951122000166_ref10","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1994.tb18097.x"},{"volume-title":"Atrioventricular Canal Defects","year":"2020","author":"Umapathi","key":"S1047951122000166_ref14"},{"key":"S1047951122000166_ref11","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2007.20.5.607"},{"key":"S1047951122000166_ref19","doi-asserted-by":"publisher","DOI":"10.1016\/j.jss.2019.06.030"},{"key":"S1047951122000166_ref5","doi-asserted-by":"publisher","DOI":"10.1111\/chd.12521"},{"key":"S1047951122000166_ref7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38165"},{"key":"S1047951122000166_ref21","doi-asserted-by":"publisher","DOI":"10.1111\/j.1747-0803.2012.00705.x"},{"key":"S1047951122000166_ref20","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2012.01.009"},{"key":"S1047951122000166_ref13","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1007\/BF00817606","article-title":"Boy: girl ratio in children born with different forms of cardiac malformations: a population-based study","volume":"15","author":"Samanek","year":"1994","journal-title":"Pediatr Cardiol"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1047951122000166","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,22]],"date-time":"2023-05-22T08:20:05Z","timestamp":1684743605000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1047951122000166\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,9]]},"references-count":30,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["S1047951122000166"],"URL":"https:\/\/doi.org\/10.1017\/s1047951122000166","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"type":"print","value":"1047-9511"},{"type":"electronic","value":"1467-1107"}],"subject":[],"published":{"date-parts":[[2022,2,9]]},"assertion":[{"value":"\u00a9 The Author(s), 2022. Published by Cambridge University Press","name":"copyright","label":"Copyright","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (http:\/\/creativecommons.org\/licenses\/by\/4.0\/), which permits unrestricted re-use, distribution and reproduction, provided the original article is properly cited.","name":"license","label":"License","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}