Citations 4
Titin-related familial dilated cardiomyopathy: factors associated with disease onset
Johnson, Renée , Fletcher, Robert A. , Peters, Stacey , Ohanian, Monique , Soka, Magdalena , Smolnikov, Andrei , Abihider, Katherine E, Ackerman, Michael J. , Ader, Flavie , Akhtar, Mohammed , Ashley, Euan A. , Austin, Rachel , Baas, Annette F., Blouin, Jean‐Louis , Brown, Emily E. , Cannie, Douglas , Correnti, Gemma, Ferro, Matteo Dal , Dellefave‐Castillo, Lisa , Dooijes, Dennis , Dybro, Anne M. , Demri, Youssef Ed, Hachmi, Mohamed El , Escobar-López, Luis , Foye, Sarah , Gigli, Marta , López, Esther González , Goudal, Adeline , Graw, Sharon , Guipponi, Michel, Haan, Eric , Haas, Jan , Hammersley, Daniel , Hansen, Frederikke , Hey, Thomas Morris , Houweling, Arjan C. , Ingrey, A., Jabbour, Andrew , Jansweijer, Joeri A. , Jongbloed, Jan D.H. , Keogh, Anne , Deprez, Ronald H. Lekanne , Macciocca, Ivan , Mansencal, Nicolas , Mansour, Julia, Martinez‐Veira, Cristina, Medo, Kristen , Merlo, Marco , Michalak, Ewa , Monserrat, Lorenzo , Mountain, Helen , Murphy, Anne M. , Murray, Brittney , Pachter, Nicholas , Palmyre, Aurélien , Pereira, Naveen L. , Picard, Kermshlise, Prasad, Sanjay , Proukhnitzky, Julie , Pruny, Jean-François, Réant, Patricia , Ronan, Anne , Semsarian, Christopher , Storm, Garrett , Thomson, Kate , Thompson, Tina , Wallis, Mathew , Flagship, Australian Genomics Cardiac, Adès, Lesley C., Alankarage, Dimithu, almog, Morgan, Al-Shinnag, Mohammad , Barnett, Chris , Bodek, Simon , Boggs, Kirsten, Bray, Alessandra , Brown, Jaye, Burns, Charlotte , Cao, Michelle, Carr, Will, Casauria, Sarah , Chalinor, Heather V., Chang, Yu‐Chen , Charitou, Theodosia , Collins, Felicity, Correnti, Gemma, Cox, Kathy, Das, Debjani , Fazio, Paul De, Elzen, Nicola Den, Devery, Sophie , Dobbins, Julia , Elbracht-Leong, Stefanie, Enríquez, A. Juanico, Fatkin, Diane , Fear, Vanessa S. , Fine, Miriam, Garza, Denisse , Gongolidis, Laura, Gray, Belinda , Greer, Cassie, Haan, Eric, Haas, Mathilda, Hanna, Bernadette , Hayward, Janette, Herrera, Carmen, Hill, Adam P. , Hollingsworth, Georgie, Hollway, Georgina E. , Horton, Ari , Ingles, Jodie, Isbister, Joanne , Jane-Pantaleo, Sarah, Kelly, Andrew , King‐Smith, Sarah L., Lassman, Timo, Lipton, Jonathon, MacIntyre, Paul, Madelli, Evanthia O. , Martin, Ellenore , Medi, C., Metke, Alejandro, Morrish, A., Morwood, Jim, Mowat, David , Ng, Chai‐Ann , Nowak, Natalie , Martinez, Noelia Nunez, O'Sullivan, S. S. , Overkov, Angela, Perrin, Mark J. , Perry, Matthew , Pflaumer, Andreas , Phillips, Peta, Phuong, Thuan, Pope-Couston, Rachel, Poplawski, Nicola K., Punni, Preeti, Rajagopalan, Sulekha , Regan, Matthew, Rogers, Jonathan, Ryan, Mark , Sandaradura, Sarah A. , Schönrock, Nicole, Scuffham, Paul , Sherburn, Isabella, Sherlock, Mary-Clare, Smerdon, Carla, Smith, Janine , Smyth, Renee, Sy, Raymond W. , Tang, Dotti, Taylor, Shelby , Tchan, Michel , Trainer, Alison, Trivedi, Gunjan, Spaendonck‐Zwarts, Karin van , Vandenberg, Jamie I. , Verma, Kunal , Vidgen, Miranda E. , Vohra, Jitendra K. , Waddel-Smith, Kathryn, Weintraub, Robert G, Worgan, Lisa , Wornham, Linda, Wu, Kathy H. C. , Yeates, Laura , Zentner, Dominica, Arnott, Clare , Fokstuen, Siv , Meder, Benjamin , Giudicessi, John R. , Parikh, Victoria N. , Ware, James S. , Rooryck, Caroline , Lakdawala, Neal K. , Elliott, Perry , Charron, Philippe , Peña‐Peña, María Luisa, Mogensen, Jens , Rasmussen, Torsten B. , Seidman, Jonathan G. , Seidman, Christine E. , Riele, Anneline S.J.M. te , Pinto, Yigal M. , Christiaans, Imke , Fatkin, Diane, Gray, Belinda , Akhtar, Mohammed M , Amin, Ahmad S , Ashley, Euan A , Atherton, John J , Austin, Rachel , Baas, Annette F , Bagnall, Richard D , Ross, Samantha Barratt , Blouin, Jean-Louis , Brown, Emily E , Bundgaard, Henning , Cannie, Douglas , Chmielewski, Przemyslaw , Crespo-Leiro, Maria Generosa , Dal Ferro, Matteo , Dellefave-Castillo, Lisa M , Dominguez, Fernando , Dybro, Anne M , Ed Demri, Youssef , El Hachmi, Mohamed , Escobar-Lopez, Luis , Foye, Sarah Jajesnica , Franaszczyk, Maria , Gigli, Marta , Goudal, Adeline , Graw, Sharon , Guipponi, Michel , Haan, Eric , Hammersley, Daniel J , Hansen, Frederikke G , Hayward, Chris , Hey, Thomas Morris , Ho, Carolyn Y , Houweling, Arjan C , Jabbour, Andrew , Jansweijer, Joeri A , Jongbloed, Jan D H , Keogh, Anne M , Larrañaga-Moreira, Jose M , Lekanne Deprez, Ronald H , Macciocca, Ivan , Macdonald, Peter S , McDonough, Barbara , McGaughran, Julie , Medo, Kristen , Michalak, Ewa , Monserrat, Lorenzo , Mountain, Helen , Muller, Steven A , Murphy, Anne M , Oates, Emily C , Ormondroyd, Elizabeth , Pachter, Nicholas , Palmyre, Aurélien , Pereira, Naveen L , Proukhnitzky, Julie , Reant, Patricia , Richard, Pascale , Ronan, Anne , Sedaghat-Hamedani, Farbod , Semsarian, Christopher , Storm, Garrett , Stroeks, Sophie , Taylor, Matthew R G , Thomson, Kate , Thompson, Tina , van Tintelen, J Peter , Vissing, Christoffer Rasmus , Waddell-Smith, Kathryn E , Wallis, Mathew , Marian, Ali J , Fokstuen, Siv , Giudicessi, J R , Parikh, Victoria N , Piriou, Nicolas , Rooryck, Caroline , Lakdawala, Neal K , Mestroni, Luisa , van Spaendonck-Zwarts, Karin Y , Garcia-Pavia, Pablo , Peña-Peña, Maria Luisa , Christensen, Alex Hoerby , Bilińska, Zofia T , Rasmussen, Torsten B , Seidman, Jonathan G , Seidman, Christine E , Te Riele, Anneline S J M , Ware, James S , Gray, Belinda , Vandenberg, Jamie I , Fletcher, Robert A , Amin, Ahmad S. , Bundgaard, Henning , Crespo‐Leiro, María G. , Domínguez, Fernándo , Heymans, Stéphane , Ho, Carolyn Y. , Ingles, Jodie , James, Paul A. , McGaughran, Julie , Paldino, Alessia , Poplawski, Nicola Kazia , Prasad, Sanjay K , Syrris, Petros , Taylor, Matthew R.G. , Tintelen, J. Peter van , Zentner, Dominica , Flagship, Australian Genomics Cardiac, Barnett, Chris, Blue, Gillian M. , Bogwitz, Michael R. , Boughtwood, Tiffany F. , Brion, Marie‐Jo , Bryson‐Richardson, Robert J. , Burnett, Leslie , Chapman, Gavin , Chong, Belinda , Correnti, Gemma, Cox, Kathy, Cunningham, Fiona, Davis, Jason A. , Davis, Andrew M. , Silva, M. De , Dunwoodie, Sally L. , Dwyer, Nathan , Elliott, David A. , Enriquez, Annabel, Finlay, Keri , Giannoulatou, Eleni , Greer, Cassie, Harvey, Richard Paul , Herrera, Carmen, Hill, Adam, Howting, Denise A. , Jackson, Matilda R. , Johnson, Renee, Kirk, Edwin Philip , Kummerfeld, Sarah , Lunke, Sebastian , MacIntyre, Paul, Mallawaarachchi, Amali C. , Mathew, Jacob , Mattiske, Tessa , McLean, Alison K. , McNamara, James W. , Milnes, Di , Milward, Michael, O'Sullivan, Sinead, Patel, Chirag , Quinn, Michael C. , Raju, Hariharan , Rath, Emma M. , Regan, Matthew, Ryan, Mark, Singer, Emma S. , Stark, Zornitza , Taylor, Jessica, Thorpe, Jordan , Trivedi, Gunjan , Valente, Giulia , Wilson, Meredith , Winlaw, David Scott , Zentner, Dominica, Oh, Jae Won , James, Cynthia A. , Villa, Roberto Barriales , Wahbi, Karim , Mestroni, Luisa , Sinagra, Gianfranco , Watkins, Hugh , McNally, Elizabeth M. , Charron, Philippe , Verdonschot, Job A.J.
European Heart Journal | July 18, 2025 | Volume: 46 | Issue: 48 | Pages: 5240-5257
Abstract Background and Aims 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. Methods 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. Results 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). Conclusions 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.
The effect of long-term tafamidis treatment on quality of life in people with transthyretin amyloid cardiomyopathy (ATTR-CM): A plain language summary
Grogan, Martha, Davis, Margot K. , Sultan, Marla B. , Gundapaneni, Balarama, Angeli, Franca S., Hanna, Mazen , Grogan, Martha , Crespo‐Leiro, María G.
Future Cardiology | September 11, 2024 | Volume: 20 | Issue: 11-12 | Pages: 595-603
Effect of Long-Term Tafamidis Treatment on Health-Related Quality of Life in Patients with Transthyretin Amyloid Cardiomyopathy
Grogan, Martha , Davis, Margot K. , Sultan, Marla B. , Gundapaneni, Balarama, Angeli, Franca S., Hanna, Mazen , Crespo‐Leiro, María G.
European Journal of Heart Failure | March 5, 2024 | Volume: 26 | Issue: 3 | Pages: 612-615
Abstract Aims To evaluate the effect of long-term tafamidis treatment on health-related quality of life (HRQoL) in patients with transthyretin amyloid cardiomyopathy (ATTR-CM) enrolled in the Tafamidis in Transthyretin Cardiomyopathy Clinical Trial (ATTR-ACT) and long-term extension (LTE) study. Methods and results We examined change from baseline in Kansas City Cardiomyopathy Questionnaire overall summary (KCCQ-OS) and clinical summary (KCCQ-CS) scores in patients who received tafamidis meglumine 80 mg for 30 months in ATTR-ACT and tafamidis (meglumine 80 mg or bioequivalent free acid 61 mg) for 30 months in the LTE study, and in patients who received placebo for 30 months in ATTR-ACT and tafamidis for 30 months in the LTE study. In ATTR-ACT, 176 and 177 patients were randomized to tafamidis 80 mg and placebo, respectively. Patients who continuously received tafamidis had a 6- to 7-point reduction in least squares (LS) mean (standard error) KCCQ-OS and KCCQ-CS scores at month 30 (−6.25 [1.53] and −7.48 [1.39]), with little or no further decline over the next 30 months (−5.92 [1.77] and −9.21 [1.88] at month 60). Patients who received placebo in ATTR-ACT had a 20-point reduction in LS mean KCCQ-OS and KCCQ-CS scores at month 30 (−19.60 [1.94] and −19.90 [2.01]), but the decline slowed after initiating tafamidis (−24.70 [3.04] and −25.30 [3.36] at month 60). Conclusion Tafamidis reduced HRQoL decline in patients with ATTR-CM. Patients continuously treated with tafamidis for 60 months demonstrated stabilized HRQoL. In patients who initially received placebo in ATTR-ACT, tafamidis reduced the decline in HRQoL during the LTE study.
Right Heart Dysfunction and Failure in Heart Failure with Preserved Ejection Fraction: Mechanisms and Management. Position Statement on Behalf of the Heart Failure Association of the European Society of Cardiology
Gorter, Thomas M. , Veldhuisen, Dirk J. van , Borlaug, Barry A. , Čelutkienė, Jelena , Crespo‐Leiro, María G. , Guazzi, Marco , Harjola, Veli‐Pekka, Heymans, Stéphane , Hill, Loreena , Lund, Lars H. , Mebazaa, Alexandre , Mueller, Christian, Paulus, Walter J. , Pieske, Burkert , Piepoli, Massimo , Seferović, Petar , Solomon, Scott D. , Shah, Sanjiv J. , Wachter, Rolf , Tschöpe, Carsten , Boer, Rudolf A. de , de Boer, Rudolf A , Borlaug, Barry A , Shah, Sanjiv J , Heymans, Stephane , Bauersachs, Johann , Coats, Andrew J.S. , Harjola, Veli‐Pekka , Lainščak, Mitja , Lam, Carolyn S.P. , Lyon, Alexander R. , Ruschitzka, Frank T. , Rutten, Frans Hendrik , Solomon, Scott David , Triposkiadis, Filippos K. , Tschöpe, Carsten , Celutkiene, Jelena , Crespo-Leiro, Maria Generosa
European Journal of Heart Failure | October 17, 2017 | Volume: 20 | Issue: 1 | Pages: 16-37
Abstract There is an unmet need for effective treatment strategies to reduce morbidity and mortality in patients with heart failure with preserved ejection fraction (HFpEF). Until recently, attention in patients with HFpEF was almost exclusively focused on the left side. However, it is now increasingly recognized that right heart dysfunction is common and contributes importantly to poor prognosis in HFpEF. More insights into the development of right heart dysfunction in HFpEF may aid to our knowledge about this complex disease and may eventually lead to better treatments to improve outcomes in these patients. In this position paper from the Heart Failure Association of the European Society of Cardiology, the Committee on Heart Failure with Preserved Ejection Fraction reviews the prevalence, diagnosis, and pathophysiology of right heart dysfunction and failure in patients with HFpEF. Finally, potential treatment strategies, important knowledge gaps and future directions regarding the right side in HFpEF are discussed.