Enabling advances in diagnosis, patient stratification and treatment for dilated cardiomyopathy patients and families.

Risultati finali

Plan for Dissemination and Communication Activities

Plan for project communication and dissemination activities.

Website and project logo

Website and project logo information with also social media links

Data Management Plan

Development of the data management plan.

Pubblicazioni

Location of <i>LMNA</i> Variants and Clinical Outcomes in Cardiomyopathy

Autori: Ashwin Bhaskaran, Rabah Ben Yaou, Adam S. Helms, Abdallah Fayssoil, Pascale Richard, Tanya Stojkovic, Frédéric Anselme, Fabien Labombarda, Cathy Chikhaoui, Annachiara De Sandre-Giovannoli, Isabelle Jeru, France Leturcq, Corinne Vigouroux, Mohamed Dembele, Perry Elliott, Konstantinos Savvatis, Katja Zeppenfeld, Hassina Bouguerra, Philippe Charron, Saurabh Kumar, Gisèle Bonne, Karim Wahbi, Neal K. Lakdawala
Pubblicato in: JAMA Cardiology, Numero 10, 2025, ISSN 2380-6583
Editore: American Medical Association (AMA)
DOI: 10.1001/JAMACARDIO.2025.2069

Biallelic Loss of Function Variants in Myocardial Zonula Adherens Protein Gene (MYZAP) Cause a Severe Recessive Form of Dilated Cardiomyopathy

Autori: Juan Pablo Ochoa; Laura Lalaguna; Jesús G. Mirelis; Fernando Dominguez; Esther Gonzalez-Lopez; Clara Salas; Gaston Roustan; Kathryn A. McGurk; Sean L. Zheng; Paul J.R. Barton; James S. Ware; María Victoria Gómez-Gaviro; Enrique Lara-Pezzi; Pablo Garcia-Pavia
Pubblicato in: Circulation: Heart Failure, 2024, ISSN 1941-3289
Editore: Lippincott Williams & Wilkins
DOI: 10.1161/CIRCHEARTFAILURE.123.011226

Reproductive options and genetic testing for patients with an inherited cardiac disease

Autori: Job A. J. Verdonschot, Aimee D. C. Paulussen, Neal K. Lakdawala, Christine E. M. de Die-Smulders, James S. Ware, Jodie Ingles
Pubblicato in: Nature Reviews Cardiology, Numero 22, 2025, ISSN 1759-5002
Editore: Springer Science and Business Media LLC
DOI: 10.1038/S41569-024-01073-3

Causal inference in the field of arrhythmia: An introduction to mendelian randomization

Autori: Eva Lukas, Margot van de Weijer, Jacob Bergstedt, Connie R. Bezzina, Jorien L. Treur
Pubblicato in: Heart Rhythm, 2024, ISSN 1547-5271
Editore: Elsevier BV
DOI: 10.1016/j.hrthm.2024.07.015

Family history of sudden cardiac death as a risk marker for ventricular arrhythmias in laminopathies

Autori: Gauthier Giordano, Julie Proukhnitzky, Frédéric Fer, Adrien Bloch, Marine Thuillot, Carole Maupain, Isabelle Magnin-Poull, Isabelle Jonveaux, Aurélien Palmyre, Agathe Bertinotti, Nicolas Mansencal, Christian de Chillou, Pascale Richard, Estelle Gandjbakhch, Philippe Charron
Pubblicato in: Europace, Numero 27, 2025, ISSN 1099-5129
Editore: Oxford University Press (OUP)
DOI: 10.1093/EUROPACE/EUAF202

Circulation Research

Autori: Laura Lalaguna; María Arévalo-Núñez de Arenas; Marina López-Olañeta; María Villalba-Orero; Rafael J. Jiménez-Riobóo; María Victoria Gómez-Gaviro; Joan Isern; Pura Muñoz-Cánoves; Barry J. Byrne; Juan Pablo Ochoa; Pablo García-Pavía; Enrique Lara-Pezzi
Pubblicato in: Circulation Research, 2025, ISSN 0009-7330
Editore: Lippincott Williams & Wilkins Ltd.
DOI: 10.1161/CIRCRESAHA.124.325848

Laminopathies: natural history and risk prediction of heart failure

Autori: Philippe Charron, Julie Proukhnitzky, Rabah Ben Yaou, Pascale Richard, Mohamed Dembélé, Mario Urtis, Thomas Gossios, Saurabh Kumar, Konstantinos Savvatis, Tanya Stojkovic, Frédéric Anselme, Philippe Maury, Estelle Gandjbakhch, Raphaël Martins, Frédéric Sacher, Jean-Noel Trochu, Stéphanie Rouanet, Julie Lejeune, Ghassan Moubarak, Abdallah Fayssoil, Eloi Marijon, Pascal Laforêt, Anthony Béhin, Sarah Leonard-Louis, Guilhem Sole, Fabien Labombarda, Corinne Metay, Susana Quijano-Roy, Ivana Dabaj, Didier Klug, Gilbert Habib, Marie-Christine Vantyghem, Philippe Chevalier, Emmanuelle Salort-Campana, Jean-Marc Sellal, Xavier Waintraub, Katja Zeppenfeld, Ahmad S Amin, Daria R Kramarenko, Yigal M Pinto, Andrew Landstrom, Alessandra Serio, Cathy Chikhaoui, Nicolas Combes, Christine Barnerias, Henri-Marc Bécane, Eric Bieth, Franck Boccara, Damien Bonnet, Françoise Bouhour, Anne-Claire Brehin, Pascal Cintas, François Roubille, Nicolas Lamblin, Pascal de Groote, Pierre-Francois Winum, Nicolas Piriou, Patricia Réant, Annachiara De Sandre-Giovannoli, Marion Masingue, Isabelle Desguerre, Julien Durigneux, Andoni Echaniz-Laguna, Romain Eschalier, Ana Ferreiro, Mélanie Fradin, Bénédicte Gaborit, Arnaud Gay, Albert Hagège, Arnaud Isapof, Isabelle Jeru, Emmanuelle Lagrue, Vincent Laugel, Arnaud Lazarus, France Leturcq, Armelle Magot, Véronique Manel, Sandra Mercier, Christophe Meune, Maud Michaud, Marie-Christine Minot-Myhié, Aleksandra Nadaj-Pakleza, Yann Péréon, Florence Petit, Julien Praline, Anne Rollin, Catherine Sarret, Frederic Taithe, Céline Tard, Vincent Tiffreau, Laurent Fauchier, Camille Vatier, Ulrike Walther-Louvier, Benjamin Schurr, Pierre Bobin, Mohamed El Hachmi, Clarisse Billon, Bertrand Fontaine, Corinne Vigouroux, Neal K Lakdawala, Eloisa Arbustini, Perry Elliott, Gisèle Bonne, Karim Wahbi
Pubblicato in: European Heart Journal, 2026, ISSN 0195-668X
Editore: Oxford University Press (OUP)
DOI: 10.1093/EURHEARTJ/EHAG104

European Heart Journal

Autori: Nerea Mora-Ayestarán; Juan Pablo Ochoa; Cristina Gómez-González; Marina Navarro-Peñalver; María Gallego-Delgado; José M Larrañaga-Moreira; Ainhoa Robles-Mezcua; María Teresa Basurte-Elorz; Jose Fernando Rodriguez-Palomares; Vicente Climent-Paya; Juan Jiménez-Jaímez; Maria Victoria Mogollón-Jiménez; Pablo Elpidio García-Granja; Ana García-Álvarez; María Luisa Peña-Peña; María Alvarez Barredo; Tomas Ripoll-Vera; Julián Palomino-Doza; Antoni Bayes-Genis; Coloma Tirón; Ana Isabel Fernández; María Sabater-Molina; Inés Toranzo; María G Crespo-Leiro; Victoria Doncel-Abad; Gemma Lacuey-Lecumberri; Javier Limeres-Freire; Maria I García-Álvarez; Eva Cabrera-Borrego; Zineb Kounka-Ait El Maalem; Silvia Vilches; Esther González-López; Eduardo Villacorta; José M García-Pinilla; Roberto Barriales-Villa; Juan Ramón Gimeno-Blanes; Pablo Garcia-Pavia; Fernando Domínguez
Pubblicato in: European Heart Journal, 2025, ISSN 0195-668X
Editore: Oxford University Press
DOI: 10.1093/EURHEARTJ/EHAF605

Druggable proteins influencing cardiac structure and function: Implications for heart failure therapies and cancer cardiotoxicity

Autori: Schmidt, Amand F.; Bourfiss, Mimount; Alasiri, Abdulrahman; Puyol-Anton, Esther; Chopade, Sandesh; van Vugt, Marion; van der Laan, Sander W.; Gross, Christian; Clarkson, Chris; Henry, Albert; Lumbers, Tom R.; van der Harst, Pim; Franceschini, Nora; Bis, Joshua C.; Velthuis, Birgitta K.; te Riele, Anneline S. J. M.; Hingorani, Aroon D.; Ruijsink, Bram; Asselbergs, Folkert W.; van Setten, Jessica; Finan, Chris
Pubblicato in: Science Advances, 2023, ISSN 2375-2548
Editore: American Association for the Advancement of Science
DOI: 10.1126/sciadv.add4984

Impact of Genotype–Phenotype Associations on Prognosis in Dilated Cardiomyopathy

Autori: Sophie L.V.M. Stroeks, Ping Wang, Marco Merlo, Steven Muller, Alessia Paldino, Nerea Mora-Ayestaran, Max Jason, Matteo dal Ferro, Carola Pio Loco detto Gava, Fernando Dominguez, Esther Gonzalez-Lopez, Arthur van den Wijngaard, Max F.G.H.M. Venner, Maurits Sikking, Michiel Minten, Bastien Nihant, Nina Beelen, Sharon Graw, Kristen Medo, Bart de Koning, Matthew Taylor, J. Peter van Tintelen, Luisa Mestroni, Gianfranco Sinagra, Anneline S.J.M. te Riele, Pablo Garcia-Pavia, Stephane Heymans, Job A.J. Verdonschot
Pubblicato in: European Journal of Heart Failure, Numero 27, 2026, ISSN 1388-9842
Editore: Oxford University Press (OUP)
DOI: 10.1002/EJHF.70040

Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience

Autori: Sean J Jurgens, Joel T Rämö, Daria R Kramarenko, Leonoor F J M Wijdeveld, Jan Haas, Mark D Chaffin, Sophie Garnier, Liam Gaziano, Lu-Chen Weng, Alex Lipov, Sean L Zheng, Albert Henry....and Connie R Bezzina
Pubblicato in: Nature Genetics, 2024, ISSN 1061-4036
Editore: Nature Publishing Group
DOI: 10.1038/s41588-024-01975-5

Association of genotype with treatment response and prognosis in dilated cardiomyopathy

Autori: Mora-Ayestarán, Nerea; Ochoa, Juan Pablo; Espinosa-Castro, María Ángeles; Navarro-Peñalver, Marina; Villacorta, Eduardo; Crespo-Leiro, María G; Climent-Payá, Vicente; Lacuey-Lecumberri, Gemma; Peña-Peña, María Luisa; Bermúdez-Jiménez, Francisco J; García-Pinilla, José M; Mogollón-Jiménez, María Victoria; Limeres-Freire, Javier; García-Álvarez, Ana; Bayés-Genís, Antoni; Palomino-Doza, Julián; Tirón, Coloma; Ripoll-Vera, Tomas; López, Javier; Brion, María; Vilches-Soria, Silvia; Sabater-Molina, María; García-Berrocal, Belén; Larrañaga-Moreira, José M; García-Álvarez, María I; Basurte-Elorz, María Teresa; Llamas-Gómez, Helena; Méndez-Fernández, Irene; Garrido-Bravo, Iris Paula; González-López, Esther; Gallego-Delgado, María; Barriales-Villa, Roberto; Lara-Pezzi, Enrique; García-Pavía, Pablo; Domínguez, Fernando
Pubblicato in: Revista Española de Cardiología (English Edition), 2025, ISSN 1885-5857
Editore: Elsevier
DOI: 10.1016/J.REC.2025.10.002

Genetic counselling implementation in dilated cardiomyopathy

Autori: Job A J Verdonschot, Karin Y van Spaendonck-Zwarts, Debby M E I Hellebrekers, Folkert W Asselbergs, Elijah R Behr, Philippe Charron, Dana Dawson, Pablo Garcia-Pavia, Kristina H Haugaa, Ruxandra Jurcut, Petr Kuchynka, Luis R Lopes, Andrea Mazzanti, Marco Metra, Lorenzo Monserrat, Juan Pablo Kaski, Antonis Pantazis, Sanjay K Prasad, Giuseppe Rosano, Petar M Seferovic, Mary N Sheppard, Gianfranco Sinagra, Maria Teresa Tome Esteban, Stephane R B Heymans, J Peter van Tintelen
Pubblicato in: European Heart Journal, 2026, ISSN 0195-668X
Editore: Oxford University Press (OUP)
DOI: 10.1093/EURHEARTJ/EHAG159

Integrating metabolomics and proteomics to identify novel drug targets for heart failure and atrial fibrillation

Autori: Marion van Vugt, Chris Finan, Sandesh Chopade, Rui Providencia, Connie R. Bezzina, Folkert W. Asselbergs, Jessica van Setten, A. Floriaan Schmidt
Pubblicato in: Genome Medicine, Numero 16, 2024, ISSN 1756-994X
Editore: Springer Science and Business Media LLC
DOI: 10.1186/s13073-024-01395-4

Pregnancy in women with dilated cardiomyopathy genetic variants

Autori: Restrepo-Cordoba, Maria Alejandra; Chmielewski, Przemyslaw; Truszkowska, Grazyna; Pena-Pena, Maria Luisa; Kubanek, Milos; Krebsova, Alice; Lopes, Luis R; Garcia-Ropero, Alvaro; Merlo, Marco; Paldino, Alessia; Peters, Stacey; Jurcut, Ruxandra; Barriales-Villa, Roberto; Zorio, Esther; Hazebroek, Mark; Mogensen, Jens; Garcia-Pavia, Pablo
Pubblicato in: Revista Española de Cardiología (English Edition), 2025, ISSN 1885-5857
Editore: Elsevier
DOI: 10.1016/J.REC.2024.04.002

The emerging role of clonal haematopoiesis in the pathogenesis of dilated cardiomyopathy

Autori: Job A J Verdonschot, Jose J Fuster, Kenneth Walsh, Stephane R B Heymans
Pubblicato in: European Heart Journal, 2024, ISSN 0195-668X
Editore: Oxford University Press (OUP)
DOI: 10.1093/eurheartj/ehae682

Future Development of Arrhythmogenic Risk Scores in Patients with Heart Failure and Inherited Dilated Cardiomyopathy. A Scientific Statement of the Heart Failure Association of the ESC

Autori: Marta Gigli, Job A.J. Verdonschot, Pablo Garcia-Pavia, Davide Stolfo, Lorenzo Monserrat, Sanjay Prasad, Andrea Mazzanti, Folkert W Asselbergs, Barbara Bauce, Philippe Charron, Dana Dawson, Brian P Halliday, Luisa Mestroni, Petar Seferovic, Upasana Tayal, Maria Teresa Tome Esteban, Peter Van Tintelen, Stephane Heymans, Antonis Pantazis, Marco Metra, Gianfranco Sinagra
Pubblicato in: European Journal of Heart Failure, Numero 27, 2026, ISSN 1388-9842
Editore: Oxford University Press (OUP)
DOI: 10.1002/EJHF.70042

Top stories on genome-wide association studies

Autori: Connie Bezzina, Alex Lipov, Roddy Walsh
Pubblicato in: Heart Rhythm, Numero 21, 2024, ISSN 1547-5271
Editore: Elsevier BV
DOI: 10.1016/j.hrthm.2024.06.005

Rare DCM associated variants in pre-miR-208a disrupt miRNA maturation and function

Autori: Yolan J Reckman, Jan Haas, Ingeborg van der Made, Simon G Williams, Iria Gomez Diaz, Mohammed Akhtar, Jens Mogensen, Torsten B Rasmussen, Eric Villard, Philippe Charron, Perry Elliott, Bernard D Keavney, Lorenzo Monserrat, Yigal M Pinto, Benjamin Meder, Anke J Tijsen
Pubblicato in: Human Molecular Genetics, Numero 34, 2025, ISSN 0964-6906
Editore: Oxford University Press (OUP)
DOI: 10.1093/HMG/DDAF069

Biallelic Loss of Function Variants in Myocardial Zonula Adherens Protein Gene (MYZAP) Cause a Severe Recessive Form of Dilated Cardiomyopathy

Autori: Juan Pablo Ochoa, Laura Lalaguna, Jesús G. Mirelis, Fernando Dominguez, Esther Gonzalez-Lopez, Clara Salas, Gaston Roustan, Kathryn A. McGurk, Sean L. Zheng, Paul J.R. Barton, James S. Ware, María Victoria Gómez-Gaviro, Enrique Lara-Pezzi, Pablo Garcia-Pavia
Pubblicato in: Circulation: Heart Failure, Numero 17, 2024, ISSN 1941-3289
Editore: Ovid Technologies (Wolters Kluwer Health)
DOI: 10.1161/CIRCHEARTFAILURE.123.011226

Clinical care of family members of patients with dilated cardiomyopathy

Autori: Job A J Verdonschot, Juan Pablo Kaski, Folkert W Asselbergs, Elijah R Behr, Philippe Charron, Dana Dawson, Kristina H Haugaa, Petr Kuchynka, Luis R Lopes, Andrea Mazzanti, Lorenzo Monserrat, Antonis Pantazis, Sanjay K Prasad, Heribert Schunkert, Petar M Seferovic, Mary N Sheppard, Gianfranco Sinagra, J Peter van Tintelen, Maria Teresa Tome Esteban, Stephane R B Heymans, Pablo Garcia-Pavia
Pubblicato in: European Heart Journal, Numero 46, 2025, ISSN 0195-668X
Editore: Oxford University Press (OUP)
DOI: 10.1093/EURHEARTJ/EHAF571

European Heart Journal

Autori: Renee Johnson; Robert A Fletcher; Stacey Peters; Monique Ohanian; Magdalena Soka; Andrei Smolnikov; Katherine E Abihider; Michael J Ackerman; Flavie Ader; Mohammed M Akhtar; Ahmad S Amin; Euan A Ashley; John J Atherton; Rachel Austin; Annette F Baas; Richard D Bagnall; Samantha Barratt Ross; Jean-Louis Blouin; Emily E Brown; Henning Bundgaard; Douglas Cannie; Przemyslaw Chmielewski; Gemma Correnti; Maria Generosa Crespo-Leiro; Matteo Dal Ferro; Lisa M Dellefave-Castillo; Fernando Dominguez; Dennis Dooijes; Anne M Dybro; Youssef Ed Demri; Mohamed El Hachmi; Luis Escobar-Lopez; Sarah Jajesnica Foye; Maria Franaszczyk; Marta Gigli; Esther Gonzalez Lopez; Adeline Goudal; Sharon Graw; Michel Guipponi; Eric Haan; Jan Haas; Daniel J Hammersley; Frederikke G Hansen; Christopher S Hayward; Thomas Morris Hey; Stephane Heymans; Carolyn Y Ho; Arjan C Houweling; Jodie Ingles; Angela Ingrey; Andrew Jabbour; Paul A James; Joeri A Jansweijer; Jan D H Jongbloed; Anne M Keogh; Jose M Larrañaga-Moreira; Ronald H Lekanne Deprez; Ivan Macciocca; Peter S Macdonald; Nicolas Mansencal; Julia Mansour; Cristina Martinez-Veira; Barbara McDonough; Julie McGaughran; Kristen Medo; Marco Merlo; Ewa Michalak; Lorenzo Monserrat; Helen Mountain; Steven A Muller; Anne M Murphy; Brittney Murray; Emily C Oates; Elizabeth Ormondroyd; Nicholas Pachter; Alessia Paldino; Aurélien Palmyre; Naveen L Pereira; Kermshlise C Picard; Nicola Poplawski; Sanjay Prasad; Julie Proukhnitzky; Jean-Francois Pruny; Patricia Reant; Pascale Richard; Anne Ronan; Farbod Sedaghat-Hamedani; Christopher Semsarian; Garrett Storm; Sophie Stroeks; Petros Syrris; Matthew R G Taylor; Kate Thomson; Tina Thompson; J Peter van Tintelen; Christoffer Rasmus Vissing; Kathryn E Waddell-Smith; Mathew Wallis; Dominica Zentner; Lesley Ades; Dimithu Alankarage; Morgan Almog; Mohammad Al-Shinnag; John J Atherton; Rachel Austin; Richard D Bagnall; Chris Barnett; Gillian M Blue; Simon Bodek; Kirsten Boggs; Michael Bogwitz; Tiffany Boughtwood; Alessandra Bray; Marie-Jo Brion; Jaye Brown; Rob Bryson-Richardson; Leslie Burnett; Charlotte Burns; Michelle Cao; Will Carr; Sarah Casauria; Heather Chalinor; Yuchen Chang; Gavin Chapman; Theodosia Charitou; Belinda Chong; Felicity Collins; Gemma Correnti; Kathy Cox; Fiona Cunningham; Debjani Das; Jason Davis; Andrew Davis; Paul De Fazio; Michelle de Silva; Nicola Den Elzen; Sophie Devery; Julia Dobbins; Sally L Dunwoodie; Nathan Dwyer; Stefanie Elbracht-Leong; David Elliott; Annabel Enriquez; Diane Fatkin; Vanessa Fear; Miriam Fine; Keri Finlay; Denisse Garza; Eleni Giannoulatou; Laura Gongolidis; Belinda Gray; Cassie Greer; Eric Haan; Mathilda Haas; Bernadette Hanna; Richard Harvey; Janette Hayward; Carmen Herrera; Adam Hill; Georgie Hollingsworth; Georgina Hollway; Ari E Horton; Denise Howting; Jodie Ingles; Joanne Isbister; Matilda Jackson; Paul James; Sarah Jane-Pantaleo; Renee Johnson; Andrew Kelly; Sarah King-Smith; Edwin Kirk; Sarah Kummerfeld; Timo Lassman; Jonathon Lipton; Sebastian Lunke; Ivan Macciocca; Paul MacIntyre; Evanthia O Madelli; Amali Mallawaarachchi; Julia Mansour; Ellenore Martin; Jacob Mathew; Tessa Mattiske; Julie McGaughran; Alison McLean; James McNamara; Caroline Medi; Alejandro Metke; Di Milnes; Michael Milward; Ansley Morrish; Jim Morwood; Helen Mountain; David Mowat; Chai-Ann Ng; Natalie Nowak; Noelia Nunez Martinez; Monique Ohanian; Sinead O'Sullivan
Pubblicato in: Titin-related familial dilated cardiomyopathy: factors associated with disease onset, 2025, ISSN 0195-668X
Editore: Oxford University Press
DOI: 10.1093/EURHEARTJ/EHAF380

Prognosis for loss-of-function vs hot-spot variants in RBM20-related cardiomyopathy

Autori: Alexis Hermida, Flavie Ader, Guillaume Jedraszak, Louis Vogel, Gilles Millat, Christophe Beyls, Nicolas Martin, Agathe Vernier, Philippe Charron, Estelle Gandjbakhch
Pubblicato in: Heart Rhythm, Numero 22, 2026, ISSN 1547-5271
Editore: Elsevier BV
DOI: 10.1016/J.HRTHM.2025.06.009

Cytotoxic T-Cells Drive Outcome in Inflammatory Dilated Cardiomyopathy

Autori: Maurits A. Sikking, Daniel Harding, Michiel T.H.M. Henkens, Sophie L.V.M. Stroeks, Max F.G.H.M. Venner, Bastien Nihant, Rick E.W. van Leeuwen, Silvia Fanti, Xiaofei Li, Pieter van Paassen, Christian Knackstedt, Hans-Peter Brunner-la Rocca, Vanessa P.M. van Empel, Job A.J. Verdonschot, Federica M. Marelli-Berg, Stephane R.B. Heymans
Pubblicato in: Circulation Research, 2024, ISSN 0009-7330
Editore: Ovid Technologies (Wolters Kluwer Health)
DOI: 10.1161/CIRCRESAHA.124.325183

Risultati finali

Pubblicazioni

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