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25 results on '"Larrañaga-Moreira, José M."'

1. Electrophysiological Phenotype-Genotype Study of Sustained Monomorphic Ventricular Tachycardia in Inherited, High Arrhythmic Risk, Left Ventricular Cardiomyopathy

Author

Cabrera-Borrego, Eva, Bermúdez-Jiménez, Francisco J., Gasperetti, Alessio, Tandri, Harikrishna, Sánchez-Millán, Pablo J., Molina-Lerma, Manuel, Roca-Luque, Ivo, Vázquez-Calvo, Sara, Compagnucci, Paolo, Casella, Michela, Tondo, Claudio, Peichl, Petr, Peretto, Giovani, Paiotti, Elena, Saguner, Ardan M, Castro-Urda, Víctor, Mora-Ayestarán, Nerea, Larrañaga-Moreira, José M, Fernández de-Aspe, Pablo, Barriales-Villa, Roberto, Muñoz-Esparza, Carmen, Zorio, Esther, Martínez-Solé, Julia, Lopes, Luis R., Tonko, Johanna B., Lambiase, Pier D., Elliott, Perry M., Rodríguez-Mañero, Moisés, Cañadas-Godoy, Victoria, Giacoman, Sebastian, Álvarez-López, Miguel, Macías-Ruiz, Rosa, McKenna, William J., Tercedor-Sánchez, Luis, and Jiménez-Jáimez, Juan

Published
2024
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5. Risk predictors in a Spanish cohort with cardiac laminopathies. The REDLAMINA registry

Author

Barriales-Villa, Roberto, Ochoa, Juan P., Larrañaga-Moreira, José M., Salazar-Mendiguchía, Joel, Díez-López, Carles, Restrepo-Córdoba, María Alejandra, Álvarez-Rubio, Jorge, Robles-Mezcua, Ainhoa, Olmo-Conesa, María C., Nicolás-Rocamora, Elisa, Sanz, Jorge, Villacorta, Eduardo, Gallego-Delgado, María, Yotti, Raquel, Espinosa, María Ángeles, Manovel, Ana, Rincón-Díaz, Luis M., Jiménez-Jaimez, Juan, Bermúdez-Jiménez, Francisco J., Basurte-Elorz, M. Teresa, Climent-Payá, Vicente, García-Álvarez, María I., Rodríguez-Palomares, José Fernando, Limeres-Freire, Javier, Pérez-Guerrero, Ainhoa, Cantero-Pérez, Eva M., Peña-Peña, María L., Palomino-Doza, Julián, Crespo-Leiro, María G., García-Pinilla, José M., Zorio, Esther, Ripoll-Vera, Tomás, García-Pavía, Pablo, Ortiz-Genga, Martín, and Monserrat, Lorenzo

Published
2021
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6. Predictores de riesgo en una cohorte española con cardiolaminopatías. Registro REDLAMINA

Author

Barriales-Villa, Roberto, Ochoa, Juan P., Larrañaga-Moreira, José M., Salazar-Mendiguchía, Joel, Díez-López, Carles, Restrepo-Córdoba, María Alejandra, Álvarez-Rubio, Jorge, Robles-Mezcua, Ainhoa, Olmo-Conesa, María C., Nicolás-Rocamora, Elisa, Sanz, Jorge, Villacorta, Eduardo, Gallego-Delgado, María, Yotti, Raquel, Espinosa, María Ángeles, Manovel, Ana, Rincón-Díaz, Luis M., Jiménez-Jaimez, Juan, Bermúdez-Jiménez, Francisco J., Basurte-Elorz, M. Teresa, Climent-Payá, Vicente, García-Álvarez, María I., Rodríguez-Palomares, José Fernando, Limeres-Freire, Javier, Pérez-Guerrero, Ainhoa, Cantero-Pérez, Eva M., Peña-Peña, María L., Palomino-Doza, Julián, Crespo-Leiro, María G., García-Pinilla, José M., Zorio, Esther, Ripoll-Vera, Tomás, García-Pavía, Pablo, Ortiz-Genga, Martín, and Monserrat, Lorenzo

Published
2021
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7. The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals

Author

Salazar-Mendiguchía, Joel, Barriales-Villa, Roberto, Lopes, Luis R., Ochoa, Juan P., Rodríguez-Vilela, Alejandro, Palomino-Doza, Julián, Larrañaga-Moreira, José M., Cicerchia, Marcos, Cárdenas-Reyes, Ivonne, García-Giustiniani, Diego, Brögger, Noël, Fernández, Germán, García, Soledad, Santiago, Lisi, Vélez, Paula, Ortiz-Genga, Martín, Elliott, Perry M., and Monserrat, Lorenzo

Published
2020
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8. Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene

Author

Akhtar, Mohammed Majid, Lorenzini, Massimiliano, Cicerchia, Marcos, Ochoa, Juan Pablo, Hey, Thomas Morris, Sabater Molina, Maria, Restrepo-Cordoba, Maria Alejandra, Dal Ferro, Matteo, Stolfo, Davide, Johnson, Renee, Larrañaga-Moreira, José M., Robles-Mezcua, Ainhoa, Rodriguez-Palomares, Jose F., Casas, Guillem, Peña-Peña, Maria Luisa, Lopes, Luis Rocha, Gallego-Delgado, Maria, Franaszczyk, Maria, Laucey, Gemma, Rangel-Sousa, Diego, Basurte, Mayte, Palomino-Doza, Julian, Villacorta, Eduardo, Bilinska, Zofia, Limeres Freire, Javier, Garcia Pinilla, José M., Barriales-Villa, Roberto, Fatkin, Diane, Sinagra, Gianfranco, Garcia-Pavia, Pablo, Gimeno, Juan R., Mogensen, Jens, Monserrat, Lorenzo, and Elliott, Perry M.

Published
2020
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9. iPSC-Based Modeling of Variable Clinical Presentation in Hypertrophic Cardiomyopathy

Author

Escribá, Rubén, primary, Larrañaga-Moreira, José M., additional, Richaud-Patin, Yvonne, additional, Pourchet, Léa, additional, Lazis, Ioannis, additional, Jiménez-Delgado, Senda, additional, Morillas-García, Alba, additional, Ortiz-Genga, Martín, additional, Ochoa, Juan Pablo, additional, Carreras, David, additional, Pérez, Guillermo Javier, additional, de la Pompa, José Luis, additional, Brugada, Ramón, additional, Monserrat, Lorenzo, additional, Barriales-Villa, Roberto, additional, and Raya, Angel, additional

Published
2023
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11. Risks of ventricular arrhythmia and heart failure in carriers of RBM20 variants

Author

Cannie, Douglas E., Protonotarios, Alexandros, Bakalakos, Athanasios, Syrris, Petros, Lorenzini, Massimiliano, De Stavola, Bianca, Bjerregaard, Louise, Dybro, Anne M., Hey, Thomas M., Hansen, Frederikke G., Navarro Peñalver, Marina, Crespo-Leiro, María Generosa, Larrañaga-Moreira, José M., Frutos, Fernando de, Johnson, Renee, Slater, Thomas A., Monserrat, Lorenzo, Sengupta, Anshuman, Mestroni, Luisa, Taylor, Matthew R.G., Sinagra, Gianfranco, Bilinska, Zofia, Solla-Ruiz, Itziar, Arana Achaga, Xabier, Barriales-Villa, Roberto, García-Pavia, Pablo, Gimeno, Juan R., Dal Ferro, Matteo, Merlo, Marco, Wahbi, Karim, Fatkin, Diane, Mogensen, Jens, Rasmussen, Torsten B., Elliott, Perry M., Cannie, Douglas E., Protonotarios, Alexandros, Bakalakos, Athanasios, Syrris, Petros, Lorenzini, Massimiliano, De Stavola, Bianca, Bjerregaard, Louise, Dybro, Anne M., Hey, Thomas M., Hansen, Frederikke G., Navarro Peñalver, Marina, Crespo-Leiro, María Generosa, Larrañaga-Moreira, José M., Frutos, Fernando de, Johnson, Renee, Slater, Thomas A., Monserrat, Lorenzo, Sengupta, Anshuman, Mestroni, Luisa, Taylor, Matthew R.G., Sinagra, Gianfranco, Bilinska, Zofia, Solla-Ruiz, Itziar, Arana Achaga, Xabier, Barriales-Villa, Roberto, García-Pavia, Pablo, Gimeno, Juan R., Dal Ferro, Matteo, Merlo, Marco, Wahbi, Karim, Fatkin, Diane, Mogensen, Jens, Rasmussen, Torsten B., and Elliott, Perry M.

Abstract

[Abstract] Background: Variants in RBM20 are reported in 2% to 6% of familial cases of dilated cardiomyopathy and may be associated with fatal ventricular arrhythmia and rapid heart failure progression. We sought to determine the risk of adverse events in RBM20 variant carriers and the impact of sex on outcomes. Methods: Consecutive probands and relatives carrying RBM20 variants were retrospectively recruited from 12 cardiomyopathy units. The primary end point was a composite of malignant ventricular arrhythmia (MVA) and end-stage heart failure (ESHF). MVA and ESHF end points were also analyzed separately and men and women compared. Left ventricular ejection fraction (LVEF) contemporary to MVA was examined. RBM20 variant carriers with left ventricular systolic dysfunction (RBM20LVSD) were compared with variant-elusive patients with idiopathic left ventricular systolic dysfunction. Results: Longitudinal follow-up data were available for 143 RBM20 variant carriers (71 men; median age, 35.5 years); 7 of 143 had an MVA event at baseline. Thirty of 136 without baseline MVA (22.0%) reached the primary end point, and 16 of 136 (11.8%) had new MVA with no significant difference between men and women (log-rank P=0.07 and P=0.98, respectively). Twenty of 143 (14.0%) developed ESHF (17 men and 3 women; log-rank P<0.001). Four of 10 variant carriers with available LVEF contemporary to MVA had an LVEF >35%. At 5 years, 15 of 67 (22.4%) RBM20LVSD versus 7 of 197 (3.6%) patients with idiopathic left ventricular systolic dysfunction had reached the primary end point (log-rank P<0.001). RBM20 variant carriage conferred a 6.0-fold increase in risk of the primary end point. Conclusions: RBM20 variants are associated with a high risk of MVA and ESHF compared with idiopathic left ventricular systolic dysfunction. The risk of MVA in male and female RBM20 variant carriers is similar, but male sex is strongly associated with ESHF.

Published
2023

12. Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator

Author

Protonotarios, Alexandros, primary, Bariani, Riccardo, additional, Cappelletto, Chiara, additional, Pavlou, Menelaos, additional, García-García, Alba, additional, Cipriani, Alberto, additional, Protonotarios, Ioannis, additional, Rivas, Adrian, additional, Wittenberg, Regitze, additional, Graziosi, Maddalena, additional, Xylouri, Zafeirenia, additional, Larrañaga-Moreira, José M, additional, de Luca, Antonio, additional, Celeghin, Rudy, additional, Pilichou, Kalliopi, additional, Bakalakos, Athanasios, additional, Lopes, Luis Rocha, additional, Savvatis, Konstantinos, additional, Stolfo, Davide, additional, Dal Ferro, Matteo, additional, Merlo, Marco, additional, Basso, Cristina, additional, Freire, Javier Limeres, additional, Rodriguez-Palomares, Jose F, additional, Kubo, Toru, additional, Ripoll-Vera, Tomas, additional, Barriales-Villa, Roberto, additional, Antoniades, Loizos, additional, Mogensen, Jens, additional, Garcia-Pavia, Pablo, additional, Wahbi, Karim, additional, Biagini, Elena, additional, Anastasakis, Aris, additional, Tsatsopoulou, Adalena, additional, Zorio, Esther, additional, Gimeno, Juan R, additional, Garcia-Pinilla, Jose Manuel, additional, Syrris, Petros, additional, Sinagra, Gianfranco, additional, Bauce, Barbara, additional, and Elliott, Perry M, additional

Published
2022
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16. Association of Genetic Variants With Outcomes in Patients With Nonischemic Dilated Cardiomyopathy

Author

Escobar-Lopez, Luis, primary, Ochoa, Juan Pablo, additional, Mirelis, Jesús G., additional, Espinosa, María Ángeles, additional, Navarro, Marina, additional, Gallego-Delgado, María, additional, Barriales-Villa, Roberto, additional, Robles-Mezcua, Ainhoa, additional, Basurte-Elorz, María Teresa, additional, Gutiérrez García-Moreno, Laura, additional, Climent, Vicente, additional, Jiménez-Jaimez, Juan, additional, Mogollón-Jiménez, María Victoria, additional, Lopez, Javier, additional, Peña-Peña, María Luisa, additional, García-Álvarez, Ana, additional, Brion, María, additional, Ripoll-Vera, Tomas, additional, Palomino-Doza, Julián, additional, Tirón, Coloma, additional, Idiazabal, Uxua, additional, Brögger, Maria Noël, additional, García-Hernández, Soledad, additional, Restrepo-Córdoba, María Alejandra, additional, Gonzalez-Lopez, Esther, additional, Méndez, Irene, additional, Sabater, María, additional, Villacorta, Eduardo, additional, Larrañaga-Moreira, José M., additional, Abecia, Ana, additional, Fernández, Ana Isabel, additional, García-Pinilla, José M., additional, Rodríguez-Palomares, José F., additional, Gimeno-Blanes, Juan Ramón, additional, Bayes-Genis, Antoni, additional, Lara-Pezzi, Enrique, additional, Domínguez, Fernando, additional, and Garcia-Pavia, Pablo, additional

Published
2021
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18. Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy.

Author

Restrepo‐Cordoba, Maria A., Wahbi, Karim, Florian, Anca R., Jiménez‐Jáimez, Juan, Politano, Luisa, Arad, Michael, Climent‐Paya, Vicente, Garcia‐Alvarez, Ana, Hansen, Rasmus B., Larrañaga‐Moreira, José M., Kubanek, Milos, Lopes, Luis R., Ros, Andrea, Jurcut, Ruxandra, Rasmussen, Torsten B., Ruiz‐Guerrero, Luis, Pribe‐Wolferts, Regina, Palomino‐Doza, Julian, Bilinska, Zofia, and Rodríguez‐Palomares, José F.

Subjects
TREATMENT effectiveness, DILATED cardiomyopathy, VENTRICULAR arrhythmia, CARDIAC arrest, MUSCLE diseases, DYSTROPHIN genes, HEART failure, LEFT heart ventricle, RESEARCH, MUSCLE proteins, RESEARCH methodology, RETROSPECTIVE studies, MEDICAL cooperation, EVALUATION research, COMPARATIVE studies, DISEASE prevalence, STROKE volume (Cardiac output), HEART physiology
Abstract

Aims: Dilated cardiomyopathy (DCM) associated with dystrophin gene (DMD) mutations in individuals with mild or absent skeletal myopathy is often indistinguishable from other DCM forms. We sought to describe the phenotype and prognosis of DMD associated DCM in DMD mutation carriers without severe skeletal myopathy.Methods and Results: At 26 European centres, we retrospectively collected clinical characteristics and outcomes of 223 DMD mutation carriers (83% male, 33 ± 15 years). A total of 112 individuals (52%) had DCM at first evaluation [n = 85; left ventricular ejection fraction (LVEF) 34 ± 11.2%] or developed DCM (n = 27; LVEF 41.3 ± 7.5%) after a median follow-up of 96 months (interquartile range 5-311 months). DCM penetrance was 45% in carriers older than 40 years. DCM appeared earlier in males and was independent of the type of mutation, presence of skeletal myopathy, or elevated serum creatine kinase levels. Major adverse cardiac events (MACE) occurred in 22% individuals with DCM, 18% developed end-stage heart failure and 9% sudden cardiac death or equivalent. Skeletal myopathy was not associated with survival free of MACE in patients with DCM. Decreased LVEF and increased left ventricular end-diastolic diameter at baseline were associated with MACE. Individuals without DCM had favourable prognosis without MACE or death during follow-up.Conclusions: DMD-associated DCM without severe skeletal myopathy is characterized by incomplete penetrance but high risk of MACE, including progression to end-stage heart failure and ventricular arrhythmias. DCM onset is the major determinant of prognosis with similar survival regardless of the presence of skeletal myopathy. [ABSTRACT FROM AUTHOR]

Published
2021
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24. Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator

Author

Alexandros Protonotarios, Riccardo Bariani, Chiara Cappelletto, Menelaos Pavlou, Alba García-García, Alberto Cipriani, Ioannis Protonotarios, Adrian Rivas, Regitze Wittenberg, Maddalena Graziosi, Zafeirenia Xylouri, José M Larrañaga-Moreira, Antonio de Luca, Rudy Celeghin, Kalliopi Pilichou, Athanasios Bakalakos, Luis Rocha Lopes, Konstantinos Savvatis, Davide Stolfo, Matteo Dal Ferro, Marco Merlo, Cristina Basso, Javier Limeres Freire, Jose F Rodriguez-Palomares, Toru Kubo, Tomas Ripoll-Vera, Roberto Barriales-Villa, Loizos Antoniades, Jens Mogensen, Pablo Garcia-Pavia, Karim Wahbi, Elena Biagini, Aris Anastasakis, Adalena Tsatsopoulou, Esther Zorio, Juan R Gimeno, Jose Manuel Garcia-Pinilla, Petros Syrris, Gianfranco Sinagra, Barbara Bauce, Perry M Elliott, Protonotarios, Alexandro, Bariani, Riccardo, Cappelletto, Chiara, Pavlou, Menelao, García-García, Alba, Cipriani, Alberto, Protonotarios, Ioanni, Rivas, Adrian, Wittenberg, Regitze, Graziosi, Maddalena, Xylouri, Zafeirenia, Larrañaga-Moreira, José M, de Luca, Antonio, Celeghin, Rudy, Pilichou, Kalliopi, Bakalakos, Athanasio, Lopes, Luis Rocha, Savvatis, Konstantino, Stolfo, Davide, Dal Ferro, Matteo, Merlo, Marco, Basso, Cristina, Freire, Javier Limere, Rodriguez-Palomares, Jose F, Kubo, Toru, Ripoll-Vera, Toma, Barriales-Villa, Roberto, Antoniades, Loizo, Mogensen, Jen, Garcia-Pavia, Pablo, Wahbi, Karim, Biagini, Elena, Anastasakis, Ari, Tsatsopoulou, Adalena, Zorio, Esther, Gimeno, Juan R, Garcia-Pinilla, Jose Manuel, Syrris, Petro, Sinagra, Gianfranco, Bauce, Barbara, and Elliott, Perry M

Subjects
Arrhythmogenic Right Ventricular Dysplasia/genetics, Arrhythmogenic right ventricular cardiomyopathy, Genotype, Risk stratification, Sudden cardiac death, Ventricular arrhythmia, Arrhythmias, Cardiac, Risk Assessment, Death, Sudden, Cardiac, Risk Factors, Humans, Cardiology and Cardiovascular Medicine, Death, Sudden, Cardiac/epidemiology, Arrhythmogenic Right Ventricular Dysplasia
Abstract

Aims To study the impact of genotype on the performance of the 2019 risk model for arrhythmogenic right ventricular cardiomyopathy (ARVC). Methods and results The study cohort comprised 554 patients with a definite diagnosis of ARVC and no history of sustained ventricular arrhythmia (VA). During a median follow-up of 6.0 (3.1,12.5) years, 100 patients (18%) experienced the primary VA outcome (sustained ventricular tachycardia, appropriate implantable cardioverter defibrillator intervention, aborted sudden cardiac arrest, or sudden cardiac death) corresponding to an annual event rate of 2.6% [95% confidence interval (CI) 1.9–3.3]. Risk estimates for VA using the 2019 ARVC risk model showed reasonable discriminative ability but with overestimation of risk. The ARVC risk model was compared in four gene groups: PKP2 (n = 118, 21%); desmoplakin (DSP) (n = 79, 14%); other desmosomal (n = 59, 11%); and gene elusive (n = 160, 29%). Discrimination and calibration were highest for PKP2 and lowest for the gene-elusive group. Univariable analyses revealed the variable performance of individual clinical risk markers in the different gene groups, e.g. right ventricular dimensions and systolic function are significant risk markers in PKP2 but not in DSP patients and the opposite is true for left ventricular systolic function. Conclusion The 2019 ARVC risk model performs reasonably well in gene-positive ARVC (particularly for PKP2) but is more limited in gene-elusive patients. Genotype should be included in future risk models for ARVC.

Published
2022
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