{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T04:58:27Z","timestamp":1772945907587,"version":"3.50.1"},"reference-count":15,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T00:00:00Z","timestamp":1769472000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2026,3]]},"DOI":"10.1016\/j.ejmg.2026.105070","type":"journal-article","created":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T16:37:16Z","timestamp":1769531836000},"page":"105070","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Tachycardiomyopathy-like presentation in neonatal MCAD deficiency: A novel cardiac phenotype"],"prefix":"10.1016","volume":"80","author":[{"given":"Elisabetta","family":"Morana","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federico","family":"Baronio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcello","family":"Lanari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4573-9314","authenticated-orcid":false,"given":"Egidio","family":"Candela","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Ortolano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simone","family":"Bonetti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriele","family":"Bronzetti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giacomo","family":"Biasucci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tammam","family":"Hasan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luca","family":"Ragni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Donti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2026.105070_bib1","series-title":"Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency","author":"Adam","year":"1993"},{"key":"10.1016\/j.ejmg.2026.105070_bib2","first-page":"11","article-title":"Recurrent ventricular tachycardia in medium-chain acyl-coenzyme A dehydrogenase deficiency","volume":"27","author":"Bala","year":"2016","journal-title":"JIMD Rep"},{"issue":"5","key":"10.1016\/j.ejmg.2026.105070_bib3","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1016\/j.jpeds.2005.12.028","article-title":"The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome","volume":"148","author":"Derks","year":"2006","journal-title":"J. Pediatr."},{"issue":"9","key":"10.1016\/j.ejmg.2026.105070_bib4","doi-asserted-by":"crossref","first-page":"1594","DOI":"10.1007\/s00134-003-1871-3","article-title":"Adult presentation of MCAD deficiency revealed by coma and severe arrythmias","volume":"29","author":"Feillet","year":"2003","journal-title":"Intensive Care Med."},{"issue":"1","key":"10.1016\/j.ejmg.2026.105070_bib5","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1177\/2150135113501900","article-title":"Resuscitation of a neonate with medium chain acyl-coenzyme a dehydrogenase deficiency using extracorporeal life support","volume":"5","author":"Kumar","year":"2014","journal-title":"World J Pediatr Congenit Heart Surg"},{"key":"10.1016\/j.ejmg.2026.105070_bib6","first-page":"114","article-title":"Pulmonary haemorrhage and cardiac dysfunction in a neonate with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency","volume":"94","author":"Maclean","year":"2005","journal-title":"Acta Paediatr."},{"key":"10.1016\/j.ejmg.2026.105070_bib7","unstructured":"Marcello Marc\u00ed and Patrizia Ajovalasit, Medium-Chain Acyl-CoA Dehydrogenase Deficiency in an Infant with Dilated Cardiomyopathy."},{"issue":"1","key":"10.1016\/j.ejmg.2026.105070_bib8","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1007\/s10545-006-0488-4","article-title":"Late presentation of medium-chain acyl-CoA dehydrogenase deficiency","volume":"30","author":"Mayell","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"issue":"24","key":"10.1016\/j.ejmg.2026.105070_bib9","doi-asserted-by":"crossref","first-page":"473","DOI":"10.21037\/atm.2018.10.57","article-title":"Fatty acid oxidation disorders","volume":"6","author":"Merritt","year":"2018","journal-title":"Ann. Transl. Med."},{"key":"10.1016\/j.ejmg.2026.105070_bib10","doi-asserted-by":"crossref","first-page":"1781","DOI":"10.1056\/NEJMc071277","article-title":"Medium chain acyl-coenzyme A dehydrogenase deficiency in a neonate","volume":"357","author":"Rice","year":"2007","journal-title":"N. Engl. J. Med."},{"issue":"3","key":"10.1016\/j.ejmg.2026.105070_bib11","doi-asserted-by":"crossref","first-page":"47","DOI":"10.3390\/ijns8030047","article-title":"Expanded newborn screening in Italy using tandem mass spectrometry: two years of national experience","volume":"8","author":"Ruoppolo","year":"2022","journal-title":"Int J Neonatal Screen"},{"key":"10.1016\/j.ejmg.2026.105070_bib12","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1046\/j.1540-8167.2005.40607.x","article-title":"The Brugada ECG pattern in a neonate","volume":"16","author":"Sanatani","year":"2005","journal-title":"J. Cardiovasc. Electrophysiol."},{"issue":"4","key":"10.1016\/j.ejmg.2026.105070_bib13","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1023\/A:1005556207210","article-title":"Recognition and management of fatty acid oxidation defects: a series of 107 patients","volume":"22","author":"Saudubray","year":"1999","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ejmg.2026.105070_bib14","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1007\/BF01800712","article-title":"Medium-chain acyl-CoA dehydrogenase deficiency: Metabolic effects and therapeutic efficacy of long-term-carnitine supplementation","volume":"12","author":"Treem","year":"1989","journal-title":"J. Inherit. Metab. Dis."},{"issue":"3","key":"10.1016\/j.ejmg.2026.105070_bib15","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1159\/000295713","article-title":"Neonatal ventricular tachyarrhythmias in medium chain acyl-CoA dehydrogenase deficiency","volume":"98","author":"Yusuf","year":"2010","journal-title":"Neonatology"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721226000042?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721226000042?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,3,7]],"date-time":"2026-03-07T14:32:23Z","timestamp":1772893943000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721226000042"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3]]},"references-count":15,"alternative-id":["S1769721226000042"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2026.105070","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2026,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Tachycardiomyopathy-like presentation in neonatal MCAD deficiency: A novel cardiac phenotype","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2026.105070","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Authors. Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}],"article-number":"105070"}}