{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T23:28:16Z","timestamp":1782602896086,"version":"3.54.5"},"reference-count":28,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2022,12,10]],"date-time":"2022-12-10T00:00:00Z","timestamp":1670630400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: Aortic root dilation (ARD) has been described in 22q11.2DS, even without congenital heart disease (CHD). However, the clinical implications and longitudinal course are unclear. In this study, we evaluated aortic root (AR) dimensions in 22q112.DS adolescents\/adults without major intracardiac CHDs, analyzed the progression over time and investigated correlations with extracardiac comorbidities. Methods: AR dimensions were evaluated in 74 patients, measuring the sinus of Valsalva (VS) and proximal ascending aorta (AA), using Z-score to define mild, moderate and severe degrees. Changes in AR dimensions during longitudinal echocardiographic follow-up were investigated. Phenotypic characteristics have been collected. Results: Twenty-four patients (32.4%) showed ARD in terms of VS Z-score (2.43; IQR 2.08\u20133.01), eight (33.3%) of a moderate\/severe degree. Thirteen (54.2%) had concomitant AAD (Z-score 2.34; IQR 1.60\u20132.85). The risk of ARD was significantly directly related to skeletal\/connective tissue disorders (OR 12.82, 95% CI 1.43\u2013115.31; p = 0.023) and inversely related to BMI (OR 0.86, 95% CI 0.77\u20130.97; p = 0.011). A significant increase in AR diameter\u2019s absolute value (p = 0.001) over time has been detected. Conclusion: Isolated ARD is common in 22q11.2DS. Although some clinical risk factors have been identified, pathogenetic mechanisms and risk of complications are undefined. Regular cardiac evaluations should be part of the 22q11.2DS follow-up, and also in non-CHDs patients, to improve long-term outcome.<\/jats:p>","DOI":"10.3390\/genes13122334","type":"journal-article","created":{"date-parts":[[2022,12,12]],"date-time":"2022-12-12T03:02:37Z","timestamp":1670814157000},"page":"2334","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Clinical Risk Factors for Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome: A Longitudinal Single-Center Study"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3778-3769","authenticated-orcid":false,"given":"Carolina","family":"Putotto","sequence":"first","affiliation":[{"name":"Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Pulvirenti","sequence":"additional","affiliation":[{"name":"Regional Reference Centre for Primary Immune Deficiencies, Azienda Ospedaliera Universitaria Policlinico Umberto I, 00185 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 Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00161 Rome, Italy"},{"name":"Neonatal Intensive Care Unit, Medical and Surgical Department of Fetus, Newborn and Infant\u2014Bambino Ges\u00f9 Children\u2019s Hospital IRCCS, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1261-243X","authenticated-orcid":false,"given":"Ina","family":"Isufi","sequence":"additional","affiliation":[{"name":"Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Unolt","sequence":"additional","affiliation":[{"name":"Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00161 Rome, Italy"},{"name":"Department of Pediatric Cardiology and Cardiac Surgery, Bambino Ges\u00f9 Children\u2019s Hospital IRCCS, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Anaclerio","sequence":"additional","affiliation":[{"name":"Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viviana","family":"Caputo","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, Sapienza University of Rome, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3554-2817","authenticated-orcid":false,"given":"Laura","family":"Bernardini","sequence":"additional","affiliation":[{"name":"Cytogenetics Unit, Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo, 71013 Foggia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1654-9001","authenticated-orcid":false,"given":"Elisa","family":"Messina","sequence":"additional","affiliation":[{"name":"Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corrado","family":"Moretti","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\/0000-0001-5958-9364","authenticated-orcid":false,"given":"Luigi","family":"Tarani","sequence":"additional","affiliation":[{"name":"Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00161 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":"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"}]}],"member":"1968","published-online":{"date-parts":[[2022,12,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"15071","DOI":"10.1038\/nrdp.2015.71","article-title":"22q11.2 Deletion Syndrome","volume":"1","author":"Sullivan","year":"2015","journal-title":"Nat. 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