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EU","award":["20229FE439"],"award-info":[{"award-number":["20229FE439"]}]},{"name":"Ministry of Health, PNRR Next-Generation EU","award":["BIRD212725"],"award-info":[{"award-number":["BIRD212725"]}]},{"name":"Ministry of Health, PNRR Next-Generation EU","award":["PNRR-MR1-2022-12376614"],"award-info":[{"award-number":["PNRR-MR1-2022-12376614"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Arrhythmogenic cardiomyopathy (ACM) is an inherited myocardial disease at risk of sudden death. Genetic testing impacts greatly in ACM diagnosis, but gene-disease associations have yet to be determined for the increasing number of genes included in clinical panels. Genetic variants evaluation was undertaken for the most relevant non-desmosomal disease genes. We retrospectively studied 320 unrelated Italian ACM patients, including 243 cases with predominant right-ventricular (ARVC) and 77 cases with predominant left-ventricular (ALVC) involvement, who did not carry pathogenic\/likely pathogenic (P\/LP) variants in desmosome-coding genes. The aim was to assess rare genetic variants in transmembrane protein 43 (TMEM43), desmin (DES), phospholamban (PLN), filamin c (FLNC), cadherin 2 (CDH2), and tight junction protein 1 (TJP1), based on current adjudication guidelines and reappraisal on reported literature data. Thirty-five rare genetic variants, including 23 (64%) P\/LP, were identified in 39 patients (16\/243 ARVC; 23\/77 ALVC): 22 FLNC, 9 DES, 2 TMEM43, and 2 CDH2. No P\/LP variants were found in PLN and TJP1 genes. Gene-based burden analysis, including P\/LP variants reported in literature, showed significant enrichment for TMEM43 (3.79-fold), DES (10.31-fold), PLN (117.8-fold) and FLNC (107-fold). A non-desmosomal rare genetic variant is found in a minority of ARVC patients but in about one third of ALVC patients; as such, clinical decision-making should be driven by genes with robust evidence. More than two thirds of non-desmosomal P\/LP variants occur in FLNC.<\/jats:p>","DOI":"10.3390\/ijms25116267","type":"journal-article","created":{"date-parts":[[2024,6,6]],"date-time":"2024-06-06T06:40:26Z","timestamp":1717656026000},"page":"6267","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["A Comprehensive Analysis of Non-Desmosomal Rare Genetic Variants in Arrhythmogenic Cardiomyopathy: Integrating in Padua Cohort Literature-Derived Data"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9601-3671","authenticated-orcid":false,"given":"Maria","family":"Bueno Marinas","sequence":"first","affiliation":[{"name":"Department of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3051-8065","authenticated-orcid":false,"given":"Marco","family":"Cason","sequence":"additional","affiliation":[{"name":"Department of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riccardo","family":"Bariani","sequence":"additional","affiliation":[{"name":"Department of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9047-9032","authenticated-orcid":false,"given":"Rudy","family":"Celeghin","sequence":"additional","affiliation":[{"name":"Department of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9528-4883","authenticated-orcid":false,"given":"Monica","family":"De Gaspari","sequence":"additional","affiliation":[{"name":"Department of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serena","family":"Pinci","sequence":"additional","affiliation":[{"name":"Department of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7842-6202","authenticated-orcid":false,"given":"Alberto","family":"Cipriani","sequence":"additional","affiliation":[{"name":"Department of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Rigato","sequence":"additional","affiliation":[{"name":"Department of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3578-0583","authenticated-orcid":false,"given":"Alessandro","family":"Zorzi","sequence":"additional","affiliation":[{"name":"Department of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5969-4412","authenticated-orcid":false,"given":"Stefania","family":"Rizzo","sequence":"additional","affiliation":[{"name":"Department of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8814-2577","authenticated-orcid":false,"given":"Gaetano","family":"Thiene","sequence":"additional","affiliation":[{"name":"Department of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Perazzolo Marra","sequence":"additional","affiliation":[{"name":"Department of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domenico","family":"Corrado","sequence":"additional","affiliation":[{"name":"Department of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0195-9753","authenticated-orcid":false,"given":"Cristina","family":"Basso","sequence":"additional","affiliation":[{"name":"Department of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7357-293X","authenticated-orcid":false,"given":"Barbara","family":"Bauce","sequence":"additional","affiliation":[{"name":"Department of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3646-0669","authenticated-orcid":false,"given":"Kalliopi","family":"Pilichou","sequence":"additional","affiliation":[{"name":"Department of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,6,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1056\/NEJM198801213180301","article-title":"Right ventricular cardiomyopathy and sudden death in young people","volume":"318","author":"Thiene","year":"1988","journal-title":"N. 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