Titin-related familial dilated cardiomyopathy: factors associated with disease onset.
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Johnson Renee, Fletcher Robert A, Peters Stacey, Ohanian Monique, Soka Magdalena, Smolnikov Andrei, Abihider Katherine E, Ackerman Michael J, Ader Flavie, 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, Correnti Gemma, Crespo-Leiro Maria Generosa, Dal Ferro Matteo, Dellefave-Castillo Lisa M, Dominguez Fernando, Dooijes Dennis, Dybro Anne M, Ed Demri Youssef, El Hachmi Mohamed, Escobar-Lopez Luis, Foye Sarah Jajesnica, Franaszczyk Maria, Gigli Marta, Lopez Esther Gonzalez, Goudal Adeline, Graw Sharon, Guipponi Michel, Haan Eric, Haas Jan, Hammersley Daniel J, Hansen Frederikke G, Hayward Christopher S, Hey Thomas Morris, Heymans Stephane, Ho Carolyn Y, Houweling Arjan C, Ingles Jodie, Ingrey Angela, Jabbour Andrew, James Paul A, Jansweijer Joeri A, Jongbloed Jan D H, Keogh Anne M, Larrañaga-Moreira Jose M, Lekanne Deprez Ronald H, Macciocca Ivan, Macdonald Peter S, Mansencal Nicolas, Mansour Julia, Martinez-Veira Cristina, McDonough Barbara, McGaughran Julie, Medo Kristen, Merlo Marco, Michalak Ewa, Monserrat Lorenzo, Mountain Helen, Muller Steven A, Murphy Anne M, Murray Brittney, Oates Emily C, Ormondroyd Elizabeth, Pachter Nicholas, Paldino Alessia, Palmyre Aurélien, Pereira Naveen L, Picard Kermshlise C, Poplawski Nicola, Prasad Sanjay, Proukhnitzky Julie, Pruny Jean-Francois, Reant Patricia, Richard Pascale, Ronan Anne, Sedaghat-Hamedani Farbod, Semsarian Christopher, Storm Garrett, Stroeks Sophie, Syrris Petros, Taylor Matthew R G, Thomson Kate, Thompson Tina, van Tintelen J Peter, Vissing Christoffer Rasmus, Waddell-Smith Kathryn E, Wallis Mathew, Zentner Dominica, Australian Genomics Cardiac Flagship, Arnott Clare, Marian Ali J, Oh Jaewon, Fokstuen Siv, James Cynthia A, Barriales-Villa Roberto, Meder Benjamin, Wahbi Karim, Giudicessi John R, Parikh Victoria N, Ware James S, Piriou Nicolas, Rooryck Caroline, Lakdawala Neal K, Mestroni Luisa, Sinagra Gianfranco, Elliott Perry M, Watkins Hugh, McNally Elizabeth M, Charron Philippe, van Spaendonck-Zwarts Karin Y, Garcia-Pavia Pablo, Peña-Peña Maria Luisa, Mogensen Jens, Christensen Alex Hoerby, Bilińska Zofia T, Rasmussen Torsten B, Seidman Jonathan G, Seidman Christine E, Te Riele Anneline S J M, Verdonschot Job A J, Pinto Yigal M, Christiaans Imke, Fatkin Diane
Аннотация
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.