{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T04:56:22Z","timestamp":1781844982187,"version":"3.54.5"},"reference-count":15,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T00:00:00Z","timestamp":1781568000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"crossref","award":["PNRR-MCNT2-2023-12377263"],"award-info":[{"award-number":["PNRR-MCNT2-2023-12377263"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background\/Objectives: Andersen\u2013Tawil Syndrome (ATS) is an ultra-rare autosomal dominant condition secondary to deleterious variants in KCNJ2 or KCNJ5 in the majority of patients. It is variably characterized by a triad of Long QT Syndrome (LQTS)\/ventricular arrhythmias with a prominent U-wave, episodic flaccid muscle weakness\/paralysis and skeletal abnormalities. Other clinical features include distinctive facial dysmorphisms, dental anomalies, and mild learning difficulties. Limited data are available regarding the initial presenting sign or symptoms of ATS. Methods: In this study, we include data from 18 patients across eight families. In our cohort, the main clues that led probands to genetic testing were syncope (three families), which was associated with dysmorphic features in one case; LQTS (one family); asymptomatic premature ventricular contractions (PVCs) (three families); and a case incidentally identified during routine cardiac evaluations and due to short stature (one family). Results: Following thorough investigations, a prolonged QT interval was detected in five individuals and prominent U-waves were observed in the majority of the court. Distinctive facial features were consistently present (100%) and can be suggested as a clinical tool for accelerated diagnosis. Skeletal manifestations ranged from 37.5% to 93.7% including short stature, scoliosis and finger defects. Only two patients showed periodic paralysis (PP). Conclusions: Regarding the clinical management of ATS, we underline the importance of the multidisciplinary, personalized, and longitudinal approach, where arrhythmia may not be the leading sign but remains the most potentially critical prognostic factor.<\/jats:p>","DOI":"10.3390\/diagnostics16121876","type":"journal-article","created":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T01:58:38Z","timestamp":1781661518000},"page":"1876","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Multisystemic Assessment in Andersen\u2013Tawil Syndrome: Report of Eighteen Individuals"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0764-686X","authenticated-orcid":false,"given":"Maria","family":"Gnazzo","sequence":"first","affiliation":[{"name":"Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00165 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, Rare Diseases and Medical Genetics Units, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Morlino","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Fondazione Casa Sollievo della Sofferenza, IRCCS, 71013 San Giovanni Rotondo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2228-8271","authenticated-orcid":false,"given":"Mafalda","family":"Mucciolo","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniele","family":"Minervino","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Castori","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Fondazione Casa Sollievo della Sofferenza, IRCCS, 71013 San Giovanni Rotondo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Mercadante","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Villa Sofia-Cervello Hospitals, 90146 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Trifiletti","sequence":"additional","affiliation":[{"name":"Department of Social Sciences, Universidad Cat\u00f3lica San Antonio de Murcia (UCAM), 30107 Murcia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Gabriela","family":"Obregon","sequence":"additional","affiliation":[{"name":"Genetics Department, Hospital Garrahan, Buenos Aires C1245, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Prontera","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, S. Maria della Misericordia Hospital, 06129 Perugia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Righi","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology and Arrhythmia\/Syncope Complex Unit, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Di Lorenzo","sequence":"additional","affiliation":[{"name":"Cardiogenetic Center, Rare Diseases and Medical Genetics Units, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo Stefano","family":"Silvetti","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology and Arrhythmia\/Syncope Complex Unit, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00165 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":"Rare Diseases and Medical Genetics Units, Bambino Ges\u00f9 Children Hospital and Research Institute, IRCCS, 00165 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 Units, Bambino Ges\u00f9 Children Hospital and Research Institute, IRCCS, 00165 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":"Pediatric Cardiology and Arrhythmia\/Syncope Complex Unit, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00165 Rome, Italy"},{"name":"The European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 Amsterdam, The Netherlands"}],"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, 00165 Rome, Italy"},{"name":"UniCamillus-Saint Camillus International University of Health Sciences, 00131 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anwar","family":"Baban","sequence":"additional","affiliation":[{"name":"Cardiogenetic Center, Rare Diseases and Medical Genetics Units, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00165 Rome, Italy"},{"name":"The European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 Amsterdam, The Netherlands"},{"name":"Mohammed Bin Rashid University of Medicine and Health Sciences (MBRU), Mediclinic Hospitals MCME, Dubai P.O. Box 505055, United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,6,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1472","DOI":"10.1212\/WNL.0b013e31828cf8d0","article-title":"Prevalence Study of Genetically Defined Skeletal Muscle Channelopathies in England","volume":"80","author":"Horga","year":"2013","journal-title":"Neurology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1016\/j.nmd.2018.03.006","article-title":"Prevalence and Mutation Spectrum of Skeletal Muscle Channelopathies in the Netherlands","volume":"28","author":"Stunnenberg","year":"2018","journal-title":"Neuromuscul. Disord."},{"key":"ref_3","unstructured":"Veerapandiyan, A., Statland, J.M., and Tawil, R. (1993). Andersen-Tawil Syndrome. 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