Clinical features and outcomes in carriers of pathogenic desmoplakin variants
| Title: | Clinical features and outcomes in carriers of pathogenic desmoplakin variants |
|---|---|
| Authors: | Gasperetti, Alessio; Carrick, Richard T; Protonotarios, Alexandros; Murray, Brittney; Laredo, Mikael; van der Schaaf, Iris; Lekanne, Ronald H; Syrris, Petros; Cannie, Douglas; Tichnell, Crystal; Cappelletto, Chiara; Gigli, Marta; Medo, Kristen; Saguner, Ardan M; Duru, Firat; Gilotra, Nisha A; Zimmerman, Stefan; Hylind, Robyn; Abrams, Dominic J; Lakdawala, Neal K; Cadrin-Tourigny, Julia; Targetti, Mattia; Olivotto, Iacopo; Graziosi, Maddalena; Cox, Moniek; Biagini, Elena; Charron, Philippe; Casella, Michela; Tondo, Claudio; Yazdani, Momina; Ware, James S; Prasad, Sanjay K; Calò, Leonardo; Smith, Eric D; Helms, Adam S; Hespe, Sophie; Ingles, Jodie; Tandri, Harikrishna; Ader, Flavie; Peretto, Giovanni; Peters, Stacey; Horton, Ari; Yao, Jess; Dittmann, Sven; Schulze-Bahr, Eric; Qureshi, Maria; Young, Katelyn; Carruth, Eric D; Haggerty, Chris; Parikh, Victoria N; Taylor, Matthew; Mestroni, Luisa; Wilde, Arthur; Sinagra, Gianfranco; Merlo, Marco; Gandjbakhch, Estelle; van Tintelen, J Peter; te Riele, Anneline S J M; Elliott, Perry M; Calkins, Hugh; James, Cynthia A |
| Contributors: | Gasperetti, Alessio; Carrick, Richard T; Protonotarios, Alexandro; Murray, Brittney; Laredo, Mikael; van der Schaaf, Iri; Lekanne, Ronald H; Syrris, Petro; Cannie, Dougla; Tichnell, Crystal; Cappelletto, Chiara; Gigli, Marta; Medo, Kristen; Saguner, Ardan M; Duru, Firat; Gilotra, Nisha A; Zimmerman, Stefan; Hylind, Robyn; Abrams, Dominic J; Lakdawala, Neal K; Cadrin-Tourigny, Julia; Targetti, Mattia; Olivotto, Iacopo; Graziosi, Maddalena; Cox, Moniek; Biagini, Elena; Charron, Philippe; Casella, Michela; Tondo, Claudio; Yazdani, Momina; Ware, James S; Prasad, Sanjay K; Calò, Leonardo; Smith, Eric D; Helms, Adam S; Hespe, Sophie; Ingles, Jodie; Tandri, Harikrishna; Ader, Flavie; Peretto, Giovanni; Peters, Stacey; Horton, Ari; Yao, Je; Dittmann, Sven; Schulze-Bahr, Eric; Qureshi, Maria; Young, Katelyn; Carruth, Eric D; Haggerty, Chri; Parikh, Victoria N; Taylor, Matthew; Mestroni, Luisa; Wilde, Arthur; Sinagra, Gianfranco; Merlo, Marco; Gandjbakhch, Estelle; van Tintelen, J Peter; te Riele, Anneline S J M; Elliott, Perry M; Calkins, Hugh; James, Cynthia A |
| Publication Year: | 2025 |
| Collection: | Università degli studi di Trieste: ArTS (Archivio della ricerca di Trieste) |
| Subject Terms: | DSP; desmoplakin; ACM |
| Description: | Pathogenic variants in the desmoplakin (DSP) gene are associated with the development of a distinct arrhythmogenic cardiomyopathy phenotype not fully captured by either dilated cardiomyopathy (DCM), non-dilated left ventricular cardiomyopathy (NDLVC), or arrhythmogenic right ventricular cardiomyopathy (ARVC). Prior studies have described baseline DSP cardiomyopathy genetic, inflammatory, and structural characteristics. However, cohort sizes have limited full clinical characterization and identification of clinical and demographic predictors of sustained ventricular arrhythmias (VAs), heart failure (HF) hospitalizations, and transplant/death. In particular, the relevance of acute myocarditis-like episodes for subsequent disease course is largely unknown. |
| Document Type: | article in journal/newspaper |
| Language: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/39288222; info:eu-repo/semantics/altIdentifier/wos/WOS:001314664100001; volume:46; issue:4; firstpage:362; lastpage:376; numberofpages:15; journal:EUROPEAN HEART JOURNAL; https://hdl.handle.net/11368/3091104; https://academic.oup.com/eurheartj/article/46/4/362/7759537 |
| DOI: | 10.1093/eurheartj/ehae571 |
| Availability: | https://hdl.handle.net/11368/3091104; https://doi.org/10.1093/eurheartj/ehae571; https://academic.oup.com/eurheartj/article/46/4/362/7759537 |
| Rights: | info:eu-repo/semantics/openAccess |
| Accession Number: | edsbas.CC5BFBB0 |
| Database: | BASE |