{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,5]],"date-time":"2022-04-05T03:17:25Z","timestamp":1649128645186},"reference-count":8,"publisher":"Georg Thieme Verlag KG","issue":"01","license":[{"start":{"date-parts":[[2021,1,20]],"date-time":"2021-01-20T00:00:00Z","timestamp":1611100800000},"content-version":"vor","delay-in-days":19,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Thorac Cardiovasc Surg Rep"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report the case of a 3-month-old girl presenting with end-stage dilated cardiomyopathy and therapy-resistant cardiogenic shock. A left ventricular assist device (LVAD) Berlin Heart EXCOR was implanted, her organs recovered, and she was listed for heart transplantation. Two months later, while still on the LVAD, she was diagnosed with the rare genetic Alstr\u00f6m syndrome. Weaning was no option, and she underwent successful heart transplantation at the age of 9 months. The follow-up 15 months later revealed an uneventful transplant course in a child with Alstr\u00f6m syndrome.<\/jats:p>","DOI":"10.1055\/s-0040-1721038","type":"journal-article","created":{"date-parts":[[2021,1,21]],"date-time":"2021-01-21T00:02:26Z","timestamp":1611187346000},"page":"e12-e14","source":"Crossref","is-referenced-by-count":1,"title":["A Rare Case of Severe Dilated Cardiomyopathy in Early Infancy"],"prefix":"10.1055","volume":"10","author":[{"given":"Meike","family":"Schwendt","sequence":"additional","affiliation":[{"name":"Department of Congenital Heart Disease and Paediatric Cardiology, Freiburg University Hospital, Freiburg, Baden-W\u00fcrttemberg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes","family":"Kroll","sequence":"additional","affiliation":[{"name":"Department of Cardio-Thoracic Surgery at University Heart Centre Freiburg, Freiburg University Hospital, Bad Krozingen, Medical Centre, University of Freiburg, Faculty of Medicine, Freiburg, Baden-W\u00fcrttemberg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thilo","family":"Fleck","sequence":"additional","affiliation":[{"name":"Department of Congenital Heart Disease and Paediatric Cardiology, Freiburg University Hospital, Freiburg, Baden-W\u00fcrttemberg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brigitte","family":"Stiller","sequence":"additional","affiliation":[{"name":"Department of Congenital Heart Disease and Paediatric Cardiology, Freiburg University Hospital, Freiburg, Baden-W\u00fcrttemberg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2021,1,20]]},"reference":[{"issue":"12","key":"ref1","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1038\/sj.ejhg.5201933","article-title":"Alstr\u00f6m syndrome","volume":"15","author":"J D Marshall","year":"2007","journal-title":"Eur J Hum Genet"},{"key":"ref2","first-page":"171","article-title":"Alstr\u00f6m syndrome: current perspectives","volume":"8","author":"M \u00c1lvarez-Satta","year":"2015","journal-title":"Appl Clin Genet"},{"issue":"03","key":"ref3","doi-asserted-by":"crossref","first-page":"225","DOI":"10.2174\/138920211795677912","article-title":"Alstr\u00f6m syndrome: genetics and clinical overview","volume":"12","author":"J D Marshall","year":"2011","journal-title":"Curr Genomics"},{"issue":"07","key":"ref4","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1002\/humu.22796","article-title":"Alstr\u00f6m syndrome: mutation spectrum of ALMS1","volume":"36","author":"J D Marshall","year":"2015","journal-title":"Hum Mutat"},{"issue":"06","key":"ref5","doi-asserted-by":"crossref","first-page":"1687","DOI":"10.1002\/ajmg.a.38200","article-title":"Variable clinical course of identical twin neonates with Alstr\u00f6m syndrome presenting coincidentally with dilated cardiomyopathy","volume":"173","author":"S A Hollander","year":"2017","journal-title":"Am J Med Genet"},{"issue":"04","key":"ref6","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1016\/j.ymgme.2017.05.017","article-title":"Characteristics of cardiomyopathy in Alstr\u00f6m syndrome: prospective single-center data on 38 patients","volume":"121","author":"A Brofferio","year":"2017","journal-title":"Mol Genet Metab"},{"issue":"01","key":"ref7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00109-018-1714-x","article-title":"ALMS1 and Alstr\u00f6m syndrome: a recessive form of metabolic, neurosensory and cardiac deficits","volume":"97","author":"T Hearn","year":"2019","journal-title":"J Mol Med (Berl)"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"3416","DOI":"10.1038\/ncomms4416","article-title":"Mutations in Alstr\u00f6m protein impair terminal differentiation of cardiomyocytes","volume":"5","author":"L T Shenje","year":"2014","journal-title":"Nat Commun"}],"container-title":["The Thoracic and Cardiovascular Surgeon Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0040-1721038.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,1,21]],"date-time":"2021-01-21T00:02:28Z","timestamp":1611187348000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0040-1721038"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1]]},"references-count":8,"journal-issue":{"issue":"01","published-online":{"date-parts":[[2021,1,19]]},"published-print":{"date-parts":[[2021,1]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0040-1721038","relation":{},"ISSN":["2194-7635","2194-7643"],"issn-type":[{"value":"2194-7635","type":"print"},{"value":"2194-7643","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1]]}}}