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Cardiac anomalies have been reported since the first description of this condition in patients with 17p11.2 deletion. Variable cardiac defects, including ventricular septal defects, atrial septal defects, tricuspid stenosis, mitral stenosis, tricuspid and mitral regurgitation, aortic stenosis, pulmonary stenosis, mitral valve prolapse, tetralogy of Fallot, and total anomalous pulmonary venous connection, have been anecdotally reported and systematic case series are still lacking. Herein, we define the spectrum of the cardiac phenotype and describe for the first time the cardiac function in a large cohort of pediatric patients with SMS. Revision of the literature and correlations between genotype and cardiac phenotype was performed.<\/jats:p>","DOI":"10.1002\/ajmg.a.62196","type":"journal-article","created":{"date-parts":[[2021,4,3]],"date-time":"2021-04-03T09:08:37Z","timestamp":1617440917000},"page":"2003-2011","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["<scp>Smith\u2013Magenis<\/scp> syndrome: Report of morphological and new functional cardiac findings with review of the literature"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3128-6657","authenticated-orcid":false,"given":"Roberta","family":"Onesimo","sequence":"first","affiliation":[{"name":"Rare Diseases Unit Fondazione Policlinico Universitario Agostino Gemelli\u2013IRCCS  Rome Italy"},{"name":"Pediatric Unit Fondazione Policlinico Universitario Agostino Gemelli\u2013IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4484-4729","authenticated-orcid":false,"given":"Paolo","family":"Versacci","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Obstetrics and Gynecology \"Sapienza\" University of Rome, Policlinico Umberto I  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelica Bibiana","family":"Delogu","sequence":"additional","affiliation":[{"name":"Pediatric Unit Fondazione Policlinico Universitario Agostino Gemelli\u2013IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriella","family":"De Rosa","sequence":"additional","affiliation":[{"name":"Pediatric Unit Fondazione Policlinico Universitario Agostino Gemelli\u2013IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9509-6778","authenticated-orcid":false,"given":"Flaminia","family":"Pugnaloni","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Obstetrics and Gynecology \"Sapienza\" University of Rome, Policlinico Umberto I  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Blandino","sequence":"additional","affiliation":[{"name":"Pediatric Unit Fondazione Policlinico Universitario Agostino Gemelli\u2013IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4089-637X","authenticated-orcid":false,"given":"Chiara","family":"Leoni","sequence":"additional","affiliation":[{"name":"Rare Diseases Unit Fondazione Policlinico Universitario Agostino Gemelli\u2013IRCCS  Rome Italy"},{"name":"Pediatric Unit Fondazione Policlinico Universitario Agostino Gemelli\u2013IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulio","family":"Calcagni","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology and Cardiac Surgery Bambino Ges\u00f9 Children's Hospital and Research Institute  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria C.","family":"Digilio","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Bambino Ges\u00f9 Children's Hospital and Research Institute  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4871-9519","authenticated-orcid":false,"given":"Marcella","family":"Zollino","sequence":"additional","affiliation":[{"name":"Dipartimento Universitario Scienze della Vita e Sanit\u00e0 Pubblica, Sezione di Medicina Genomica Universit\u00e0 Cattolica Sacro Cuore  Rome Italy"},{"name":"Genetica Medica Fondazione Policlinico Universitario A. 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