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Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction
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Amor-Salamanca, Almudena (Health in Code SL) ;
Santana Rodríguez, Alfredo (Universidad de Las Palmas de Gran Canaria) ;
Rasoul, Hazhee (St. Bartholomew's Hospital) ;
Rodríguez-Palomares, José F. (Hospital Universitari Vall d'Hebron) ;
Moldovan, Oana (Centro Hospitalar Universitário Lisboa Norte) ;
Hey, Thomas Morris (Odense University Hospital) ;
Delgado, María Gallego (Instituto de Salud Carlos III) ;
Cuenca, David López (Hospital Clínico Universitario Virgen de la Arrixaca) ;
de Castro Campos, Daniel (Hospital Universitario Puerta de Hierro) ;
Basurte-Elorz, María Teresa (Complejo Hospitalario de Navarra) ;
Macías-Ruiz, Rosa (Instituto de Investigación Biosanitaria de Granada) ;
Fuentes Cañamero, María Eugenia (Hospital Universitario de Badajoz) ;
Galvin, Joseph (University College Dublin School of Medicine) ;
Bilbao Quesada, Raquel (Hospital Álvaro Cunqueiro) ;
de la Higuera Romero, Luis (Health in Code SL) ;
Trujillo-Quintero, Juan Pablo (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
García-Cruz, Loida María (Universidad de Las Palmas de Gran Canaria) ;
Cárdenas-Reyes, Ivonne (Health in Code SL) ;
Jiménez-Jáimez, Juan (Hospital Universitario Virgen de las Nieves) ;
García-Hernández, Soledad (Hospital Universitario San Cecilio) ;
Valverde-Gómez, María (Hospital Universitario 12 de Octubre) ;
Gómez-Díaz, Iria (Health in Code SL) ;
Limeres Freire, Javier (Hospital Universitari Vall d'Hebron) ;
García-Pinilla, José Manuel (Universidad de Málaga) ;
Gimeno-Blanes, Juan R. (Hospital Clínico Universitario Virgen de la Arrixaca) ;
Savattis, Konstantinos (Queen Mary University of London) ;
García-Pavía, Pablo (Centro Nacional de Investigaciones Cardiovasculares) ;
Ochoa, Juan Pablo (Centro Nacional de Investigaciones Cardiovasculares) ;
Universitat Autònoma de Barcelona
Less than 40% of patients with dilated cardiomyopathy (DCM) have a pathogenic/likely pathogenic genetic variant identified. TBX20 has been linked to congenital heart defects; although an association with left ventricular noncompaction (LVNC) and DCM has been proposed, it is still considered a gene with limited evidence for these phenotypes. [...]
2024 -  10.1161/CIRCGEN.123.004404
Circulation. Genomic and Precision Medicine, Vol. 17 (february 2024) , p. e004404
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14 p, 2.0 MB |
Combination of late gadolinium enhancement and genotype improves prediction of prognosis in non-ischaemic dilated cardiomyopathy
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Mirelis, Jesús G. (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ;
Escobar-Lopez, Luis (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ;
Ochoa, Juan Pablo (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ;
Espinosa, María Ángeles (Hospital General Universitario Gregorio Marañón) ;
Villacorta, Eduardo (Universidad de Salamanca) ;
Navarro Peñalver, Marina (Hospital Universitario Virgen de la Arrixaca (Múrcia)) ;
Casas, Guillem (Hospital Universitari Vall d'Hebron) ;
Mora-Ayestarán, Nerea (Complejo Hospitalario de Navarra) ;
Barriales-Villa, Roberto (Universidade da Coruña) ;
Mogollón-Jiménez, María Victoria (Complejo Hospitalario Universitario de Cáceres) ;
García-Pinilla, José Manuel (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
García-Granja, Pablo Elpidio (Hospital Clínico Universitario Valladolid) ;
Climent, Vicente (Hospital General Universitario de Alicante (Alacant, País Valencià)) ;
Palomino-Doza, Julian (Hospital 12 de Octubre (Madrid)) ;
García-Álvarez, Ana (Hospital Clínic i Provincial de Barcelona) ;
Álvarez-Barredo, María (Complejo Hospitalario Universitario de Santiago de Compostela) ;
Cabrera-Borrego, Eva (Hospital Universitario Virgen de las Nieves (Granada)) ;
Ripoll-Vera, Tomás (Hospital Universitario Son Llatzer & IdISBa) ;
Peña-Peña, María Luisa (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Rodríguez-González, Elena (Hospital General Universitario Gregorio Marañón) ;
Gallego-Delgado, María (Gerencia Regional de Salud de Castilla y León (SACYL)) ;
Gonzalez-Carrillo, Josefa (Hospital Universitario Virgen de la Arrixaca (Múrcia)) ;
Fernández-Ávila, Ana (Hospital General Universitario Gregorio Marañón) ;
Rodriguez-Palomares, Jose F (Hospital Universitari Vall d'Hebron) ;
Brugada, Ramon (Hospital Universitari de Girona Doctor Josep Trueta) ;
Bayés-Genís, Antoni (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Dominguez, Fernando (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ;
García-Pavía, Pablo (Universidad Autónoma de Madrid) ;
Universitat Autònoma de Barcelona
Genotype and left ventricular scar on cardiac magnetic resonance (CMR) are increasingly recognized as risk markers for adverse outcomes in non-ischaemic dilated cardiomyopathy (DCM). We investigated the combined influence of genotype and late gadolinium enhancement (LGE) in assessing prognosis in a large cohort of patients with DCM. [...]
2022 - 10.1002/ejhf.2514
European Journal of Heart Failure, Vol. 24 (may 2022) , p. 1183-1196
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10 p, 559.2 KB |
Genetic etiology for alcohol-induced cardiac toxicity
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Ware, James S. (Imperial College London. National Heart and Lung Institute) ;
Amor-Salamanca, Almudena (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ;
Tayal, Upasana (Imperial College London. National Heart and Lung Institute) ;
Govind, Risha (Imperial College London. National Heart and Lung Institute) ;
Serrano, Isabel (Hospital Universitari Joan XXIII de Tarragona) ;
Salazar-Mendiguchía, Joel (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
García-Pinilla, José Manuel (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Pascual-Figal, Domingo A. (Hospital Universitario Virgen de la Arrixaca (Múrcia)) ;
Núñez, Julio (Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares) ;
Guzzo-Merello, Gonzalo (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ;
González-Vioque, Emiliano (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ;
Bardají, Alfredo (Hospital Universitari Joan XXIII de Tarragona) ;
Manito, Nicolas (Hospital Universitari de Bellvitge) ;
López-Garrido, Miguel A. (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Padron-Barthe, Laura (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ;
Edwards, Elizabeth (Imperial College London. National Heart and Lung Institute) ;
Whiffin, Nicola (Imperial College London. National Heart and Lung Institute) ;
Walsh, Roddy (Imperial College London. National Heart and Lung Institute) ;
Buchan, Rachel J. (Imperial College London. National Heart and Lung Institute) ;
Midwinter, William (Imperial College London. National Heart and Lung Institute) ;
Wilk, Alicja (Imperial College London. National Heart and Lung Institute) ;
Prasad, Sanjay (Imperial College London. National Heart and Lung Institute) ;
Pantazis, Antonis (Royal Brompton and Harefield. Cardiovascular Research Centre) ;
Baski, John (Royal Brompton and Harefield. Cardiovascular Research Centre) ;
O'Regan, Declan P. (Imperial College London. MRC London Institute of Medical Sciences) ;
Alonso-Pulpón, Luis (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ;
Cook, Stuart A. (Imperial College London. National Heart and Lung Institute) ;
Lara-Pezzi, Enrique (Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares) ;
Barton, Paul J. (Imperial College London. National Heart and Lung Institute) ;
García-Pavía, Pablo (Universidad Francisco de Vitoria)
Alcoholic cardiomyopathy (ACM) is defined by a dilated and impaired left ventricle due to chronic excess alcohol consumption. It is largely unknown which factors determine cardiac toxicity on exposure to alcohol. [...]
2018 - 10.1016/j.jacc.2018.03.462
Journal of the American College of Cardiology, Vol. 71, issue 20 (May 2018) , p. 2293-2302
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10 p, 723.5 KB |
Extracellular vesicles do not contribute to higher circulating levels of soluble 1 in idiopathic dilated cardiomyopathy
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Rudilla, F. (Institut Germans Trias i Pujol) ;
Gálvez-Montón, Carolina (Institut Germans Trias i Pujol) ;
Gonzalo Calvo, David de (Institut d'Investigació Biomèdica Sant Pau) ;
Valero, Ana Gámez (Institut Germans Trias i Pujol) ;
Gastelurrutia, Paloma (Institut Germans Trias i Pujol) ;
Revuelta López, Elena (Institut Germans Trias i Pujol) ;
Prat-Vidal, Cristina (Institut Germans Trias i Pujol) ;
Soler Botija, Carolina (Institut Germans Trias i Pujol) ;
Llucià-Valldeperas, Aida (Institut Germans Trias i Pujol) ;
Perea Gil, Isaac (Institut Germans Trias i Pujol) ;
Iborra Egea, Oriol (Institut Germans Trias i Pujol) ;
Borràs i Serres, Francesc Enric (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Lupón, Josep (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Llorente Cortés, Vicenta (Institut d'Investigació Biomèdica Sant Pau) ;
Bayés-Genís, Antoni (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Universitat Autònoma de Barcelona
Idiopathic dilated cardiomyopathy () is a frequent cause of heart transplantation. Potentially valuable blood markers are being sought, and low-density lipoprotein receptor-related protein 1 (1) has been linked to the underlying molecular basis of the disease. [...]
2017 - 10.1111/jcmm.13211
Journal of Cellular and Molecular Medicine, Vol. 21 (may 2017) , p. 3000-3009
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6 p, 339.5 KB |
Nuclear medicine in the management of patients with heart failure : guidance from an expert panel of the International Atomic Energy Agency (IAEA)
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Peix, Amalia (Instituto de Cardiología y Cirugía Cardiovascular, Havana, Cuba) ;
Mesquita, Claudio Tinoco (Hospital Universitário Antonio Pedro, Universidade Federal Fluminense (UFF), Niteroi) ;
Paez, Diana (Department of Nuclear Sciences and Applications, Division of Human Health, Section of Nuclear Medicine and Diagnostic Imaging, International Atomic Energy Agency, Vienna, Austria) ;
Pereira, Carlos Cunha (Quanta Diagnostico Nuclear, Curitiba) ;
Felix, Renata (Instituto Nacional de Cardiologia, Rio de Janeiro) ;
Gutierrez, Claudia (Fundación Cardioinfantil, Instituto de Cardiología, Bogotá) ;
Jaimovich, Rodrigo (Pontificia Universidad Católica de Chile) ;
Ianni, Barbara Maria (Instituto do Coração, Universidade de São Paulo, São Paulo, Brazil) ;
Soares, Jose (Instituto do Coração, Universidade de São Paulo, São Paulo, Brazil) ;
Olaya, Pastor (Fundación Clínica Valle Del Lili, Cali, Colombia) ;
Rodriguez, Ma. Victoria (Hospital General de Coro, Coro, Venezuela) ;
Flotats, Albert (Institut d'Investigació Biomèdica Sant Pau) ;
Giubbini, Raffaele (Cattedra e U.O. di Medicina Nucleare, Università e Spedali Civili, Brescia, Italy) ;
Travin, Mark (Montefiore Medical Center, Yeshiva University, New York, New York) ;
Garcia, Ernest V. (Department of Radiology, Emory University Hospital, Emory University School of Medicine, Atlanta, Georgia, USA) ;
Universitat Autònoma de Barcelona
Heart failure is increasing worldwide at epidemic proportions, resulting in considerable disability, mortality, and increase in healthcare costs. Gated myocardial perfusion single photon emission computed tomography or PET imaging is the most prominent imaging modality capable of providing information on global and regional ventricular function, the presence of intraventricular synchronism, myocardial perfusion, and viability on the same test. [...]
2014 - 10.1097/MNM.0000000000000143
Nuclear Medicine Communications, Vol. 35 (july 2014) , p. 818-823
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