{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T22:40:54Z","timestamp":1781131254319,"version":"3.54.1"},"reference-count":34,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2024,3,11]],"date-time":"2024-03-11T00:00:00Z","timestamp":1710115200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian Ministry of Health"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Sotos syndrome is an autosomal dominant condition characterized by overgrowth with advanced bone age, macrodolicocephaly, motor developmental delays and learning difficulties, and characteristic facial features caused by heterozygous pathogenetic variants in the NSD1 gene located on chromosome 5q35. The prevalence of heart defects (HDs) in individuals with Sotos syndrome is estimated to be around 15\u201340%. Septal defects and patent ductus arteriosus are the most commonly diagnosed malformations, but complex defects have also been reported. The aim of our study was to analyze the prevalence of HD, the anatomic types, and the genetic characteristics of 45 patients with Sotos syndrome carrying pathogenetic variants of NSD1 or a 5q35 deletion encompassing NSD1, who were followed at Bambino Ges\u00f9 Children\u2019s Hospital in Rome. Thirty-nine of the forty-five patients (86.7%) had a mutation in NSD1, while six of the forty-five (13.3%) had a deletion. Most of the patients (62.2%, 28\/45) were male, with a mean age of 14 \u00b1 7 years (range 0.2\u201337 years). A total of 27\/45 (60.0%) of the patients had heart defects, isolated or combined with other defects, including septal defects (12 patients), aortic anomalies (9 patients), mitral valve and\/or tricuspid valve dysplasia\/insufficiency (1 patient), patent ductus arteriosus (3 patients), left ventricular non-compaction\/hypertrabeculated left ventricle (LV) (4 patients), aortic coarctation (1 patient), aortopulmonary window (1 patient), and pulmonary valve anomalies (3 patients). The prevalences of HD in the two subgroups (deletion versus intragenic mutation) were similar (66.7% (4\/6) in the deletion group versus 58.91% (23\/39) in the intragenic variant group). Our results showed a higher prevalence of HD in patients with Sotos syndrome in comparison to that described in the literature, with similar distributions of patients with mutated and deleted genes. An accurate and detailed echocardiogram should be performed in patients with Sotos syndrome at diagnosis, and a specific cardiological follow-up program is needed.<\/jats:p>","DOI":"10.3390\/diagnostics14060594","type":"journal-article","created":{"date-parts":[[2024,3,11]],"date-time":"2024-03-11T11:05:10Z","timestamp":1710155110000},"page":"594","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3187-0829","authenticated-orcid":false,"given":"Giulio","family":"Calcagni","sequence":"first","affiliation":[{"name":"Area of Fetal, Neonatal, and Cardiological Sciences, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0054-4345","authenticated-orcid":false,"given":"Federica","family":"Ferrigno","sequence":"additional","affiliation":[{"name":"Area of Fetal, Neonatal, and Cardiological Sciences, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00146 Rome, Italy"},{"name":"The School of Pediatrics, University of Rome \u201cTor Vergata\u201d, 00173 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2339-093X","authenticated-orcid":false,"given":"Alessio","family":"Franceschini","sequence":"additional","affiliation":[{"name":"Area of Fetal, Neonatal, and Cardiological Sciences, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9505-5906","authenticated-orcid":false,"given":"Maria Lisa","family":"Dentici","sequence":"additional","affiliation":[{"name":"Medical Genetics, Translational Pediatrics and Clinical Genetics Research Area, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rossella","family":"Capolino","sequence":"additional","affiliation":[{"name":"Medical Genetics, Translational Pediatrics and Clinical Genetics Research Area, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1371-936X","authenticated-orcid":false,"given":"Lorenzo","family":"Sinibaldi","sequence":"additional","affiliation":[{"name":"Medical Genetics, Translational Pediatrics and Clinical Genetics Research Area, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8616-5065","authenticated-orcid":false,"given":"Chiara","family":"Minotti","sequence":"additional","affiliation":[{"name":"Medical Genetics Section, Department of Biomedicine and Prevention, University of Rome \u201cTor Vergata\u201d, 00173 Rome, Italy"},{"name":"Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessia","family":"Micalizzi","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7514-5683","authenticated-orcid":false,"given":"Viola","family":"Alesi","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9037-4297","authenticated-orcid":false,"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anwar","family":"Baban","sequence":"additional","affiliation":[{"name":"Cardiogenetic Center, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2275-9670","authenticated-orcid":false,"given":"Giovanni","family":"Parlapiano","sequence":"additional","affiliation":[{"name":"Cardiogenetic Center, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8440-865X","authenticated-orcid":false,"given":"Domenico","family":"Coviello","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics, Istituto Giannina Gaslini, IRCCS, 16147 Genoa, 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 Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3778-3769","authenticated-orcid":false,"given":"Carolina","family":"Putotto","sequence":"additional","affiliation":[{"name":"Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcello","family":"Chinali","sequence":"additional","affiliation":[{"name":"Area of Fetal, Neonatal, and Cardiological Sciences, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1888-373X","authenticated-orcid":false,"given":"Fabrizio","family":"Drago","sequence":"additional","affiliation":[{"name":"Area of Fetal, Neonatal, and Cardiological Sciences, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9765-7460","authenticated-orcid":false,"given":"Andrea","family":"Bartuli","sequence":"additional","affiliation":[{"name":"Rare Diseases and Medical Genetics, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Marino","sequence":"additional","affiliation":[{"name":"Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Cristina","family":"Digilio","sequence":"additional","affiliation":[{"name":"Medical Genetics, Translational Pediatrics and Clinical Genetics Research Area, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,3,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1136\/jmg.31.1.20","article-title":"Sotos syndrome: A study of the diagnostic criteria and natural history","volume":"31","author":"Cole","year":"1994","journal-title":"J. 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