2026-05-14T16:33:06Zhttps://repisalud.isciii.es/rest/oai/request
oai:repisalud.isciii.es:20.500.12105/274342026-04-21T00:16:51Zcom_20.500.12105_19586com_20.500.12105_2202col_20.500.12105_19587
Repisalud author Johnson, Renee author Fletcher, Robert A author Peters, Stacey author Ohanian, Monique author Soka, Magdalena author Smolnikov, Andrei author Abihider, Katherine E author Ackerman, Michael J author Ader, Flavie author Akhtar, Mohammed M author Amin, Ahmad S author Ashley, Euan A author Atherton, John J author Austin, Rachel author Baas, Annette F author Bagnall, Richard D author Ross, Samantha Barratt author Blouin, Jean-Louis author Brown, Emily E author Bundgaard, Henning author Cannie, Douglas author Chmielewski, Przemyslaw author Correnti, Gemma author Crespo-Leiro, Maria Generosa author Dal Ferro, Matteo author Dellefave-Castillo, Lisa M author Dominguez, Fernando author Dooijes, Dennis author Dybro, Anne M author Ed Demri, Youssef author El Hachmi, Mohamed author Escobar-Lopez, Luis author Foye, Sarah Jajesnica author Franaszczyk, Maria author Gigli, Marta author Lopez, Esther Gonzalez author Goudal, Adeline author Graw, Sharon author Guipponi, Michel author Haan, Eric author Haas, Jan author Hammersley, Daniel J author Hansen, Frederikke G author Hayward, Christopher S author Hey, Thomas Morris author Heymans, Stephane author Ho, Carolyn Y author Houweling, Arjan C author Ingles, Jodie author Ingrey, Angela author Jabbour, Andrew author James, Paul A author Jansweijer, Joeri A author Jongbloed, Jan D H author Keogh, Anne M author Larrañaga-Moreira, Jose M author Lekanne Deprez, Ronald H author Macciocca, Ivan author Macdonald, Peter S author Mansencal, Nicolas author Mansour, Julia author Martinez-Veira, Cristina author McDonough, Barbara author McGaughran, Julie author Medo, Kristen author Merlo, Marco author Michalak, Ewa author Monserrat, Lorenzo author Mountain, Helen author Muller, Steven A author Murphy, Anne M author Murray, Brittney author Oates, Emily C author Ormondroyd, Elizabeth author Pachter, Nicholas author Paldino, Alessia author Palmyre, Aurélien author Pereira, Naveen L author Picard, Kermshlise C author Poplawski, Nicola author Prasad, Sanjay author Proukhnitzky, Julie author Pruny, Jean-Francois author Reant, Patricia author Richard, Pascale author Ronan, Anne author Sedaghat-Hamedani, Farbod author Semsarian, Christopher author Storm, Garrett author Stroeks, Sophie author Syrris, Petros author Taylor, Matthew R G author Thomson, Kate author Thompson, Tina author van Tintelen, J Peter author Vissing, Christoffer Rasmus author Waddell-Smith, Kathryn E author Wallis, Mathew author Zentner, Dominica author Arnott, Clare author Marian, Ali J author Oh, Jaewon author Fokstuen, Siv author James, Cynthia A author Barriales-Villa, Roberto author Meder, Benjamin author Wahbi, Karim author Giudicessi, John R author Parikh, Victoria N author Ware, James S author Piriou, Nicolas author Rooryck, Caroline author Lakdawala, Neal K author Mestroni, Luisa author Sinagra, Gianfranco author Elliott, Perry M author Watkins, Hugh author McNally, Elizabeth M author Charron, Philippe author van Spaendonck-Zwarts, Karin Y author Garcia-Pavia, Pablo author Peña-Peña, Maria Luisa author Mogensen, Jens author Christensen, Alex Hoerby author Bilińska, Zofia T author Rasmussen, Torsten B author Seidman, Jonathan G author Seidman, Christine E author Te Riele, Anneline S J M author Verdonschot, Job A J author Pinto, Yigal M author Christiaans, Imke author Fatkin, Diane 2026-04-20T09:07:56Z 2026-04-20T09:07:56Z 2025-12-22 Eur Heart J. 2025 Dec 22;46(48):5240-5257. EUROPEAN HEART JOURNAL 40796136 https://hdl.handle.net/20.500.12105/27434 Truncating variants in the TTN gene (TTNtv) are the most common genetic cause of dilated cardiomyopathy (DCM) but also occur as incidental findings in the general population. This study investigated factors associated with the clinical manifestation of TTNtv. An international multicentre retrospective observational study was performed in families with TTNtv-related DCM. Shared frailty models were used to estimate associations of variant characteristics with lifetime risk of DCM, and logistic regression to estimate odds ratios (ORs) for individual-level clinical risk factor profiles (cardiac conditions, cardiovascular comorbidities, lifestyle) and DCM. A total of 3158 subjects in 1043 families with TTNtv-related DCM were studied. TTNtv-positive subjects were 21-fold more likely to develop DCM [OR, 21.21; 95% confidence interval (CI), 14.80-30.39]. Disease onset was earlier in males, but was similar for TTNtv of different types and locations. The presence of clinical risk factors was associated with earlier DCM onset (OR, 3.41; 95% CI, 2.06-5.64), with a prior history of atrial fibrillation having a two-fold increased odds of DCM (OR, 2.05; 95% CI, 1.27-3.32). The prevalence of clinical risk factors increased with age; however, the strength of the DCM association was greatest for young-onset (<30 years) disease (OR, 4.75; 95% CI, 2.35-9.60). Administration of beta-adrenergic receptor or renin-angiotensin system-blocking drugs prior to overt DCM was associated with 87% reduced odds of DCM (OR, .13; 95% CI, .08-.23). Disease onset in TTNtv-associated familial DCM is dependent on individual patient context and is potentially modifiable by risk factor management and prophylactic therapeutic intervention. eng Dilated cardiomyopathy Genetics Prevention Risk factors Titin Titin-related familial dilated cardiomyopathy: factors associated with disease onset. research article 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 URL https://repisalud.isciii.es/bitstreams/a7b56f3a-613d-4176-a640-c154483a0b95/download File MD5 ef171be5ea40bbc210e0d28aaf12dfa6 1218124 application/pdf Titin-related familial dilated cardiomyopathy_Eur Heart J_2025.pdf