Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction.

Autor: Amor-Salamanca A; Cardiology Department, Health in Code SL, A Coruña, Spain (A.A.-S., L.d.l.H.R., I.C.-R., S.G.-H., M.V.-G., I.G.-D., J.P.O.)., Santana Rodríguez A; Clinical Genetics Unit, Complejo Hospitalario Universitario Insular Materno Infantil, Las Palmas de Gran Canaria, Spain (A.S.R., L.M.G.-C.).; Research Institute of Biomedical and Health Sciences, University of Las Palmas de Gran Canaria, Spain (A.S.R., L.M.G.-C.)., Rasoul H; Inherited Cardiovascular Diseases Unit, St. Bartholomew's Hospital, Barts Health NHS Trust, London, United Kingdom (H.R., K.S.)., Rodríguez-Palomares JF; Cardiovascular Imaging Unit and Inherited Cardiac Diseases Unit, Cardiology Department, Vall d'Hebron University Hospital, Barcelona, Spain (J.F.R.-P., J.L.F.).; Vall d'Hebron Rsrch Unit, Barcelona, Spain (J.F.R.-P.).; Universitat Autònoma Barcelona, Spain (J.F.R.-P., J.P.T.-Q.).; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Instituto de Salud Carlos III, Madrid, Spain (J.F.R.-P., M.G.D., J.M.G.-P., J.R.G.-B., P.G.-P.).; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, ERN GUARD-Heart, Amsterdam, The Netherlands (J.F.R.-P., J.L.F., J.R.G.-B., P.G.-P.)., Moldovan O; Serviço de Genética Médica, Department de Pediatria, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Portugal (O.M.)., Hey TM; Department of Cardiology, The Clinic of Inherited Cardiovascular Diseases, Odense University Hospital, Denmark (T.M.H.)., Delgado MG; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Instituto de Salud Carlos III, Madrid, Spain (J.F.R.-P., M.G.D., J.M.G.-P., J.R.G.-B., P.G.-P.).; Cardiology Department, Hospital Universitario de Salamanca, Spain (M.G.D.).; Biomedical Research Institute of Salamanca, Gerencia Regional de Salud de Castilla y León, Spain (M.G.D.)., Cuenca DL; Department of Cardiology, Inherited Cardiac Diseases Unit, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain (D.L.C., J.R.G.-B.)., de Castro Campos D; Department of Cardiology, Heart Failure and Inherited Cardiac Diseases Unit, Hospital Universitario Puerta de Hierro, IDIPHISA, Madrid, Spain (D.d.C.C., P.G.-P., J.P.O.)., Basurte-Elorz MT; Department of Cardiology, Complejo Hospitalario de Navarra, Pamplona, Spain (M.T.B.-E.)., Macías-Ruiz R; Cardiology Department, Hospital Universitario Virgen de las Nieves, Granada, Spain (R.M.-R., J.J.-J.).; Instituto de Investigación Biosanitaria Instituto de Investigación Biosanitaria de Granada (IBS-GRANADA), Spain (R.M.-R., J.J.-J.)., Fuentes Cañamero ME; Cardiology Department, Hospital Universitario de Badajoz, Spain (M.E.F.C.)., Galvin J; Department of Cardiology, University College Dublin School of Medicine, Mater Misericordiae University Hospital, Ireland (J.G.)., Bilbao Quesada R; Cardiology Department, Hospital Álvaro Cunqueiro, Vigo, Spain (R.B.Q.)., de la Higuera Romero L; Cardiology Department, Health in Code SL, A Coruña, Spain (A.A.-S., L.d.l.H.R., I.C.-R., S.G.-H., M.V.-G., I.G.-D., J.P.O.)., Trujillo-Quintero JP; Universitat Autònoma Barcelona, Spain (J.F.R.-P., J.P.T.-Q.).; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Sabadell, Spain (J.P.T.-Q.).; Institut d'Investigació i Innovació Parc Taulí, Sabadell, Spain (J.P.T.-Q.)., García-Cruz LM; Clinical Genetics Unit, Complejo Hospitalario Universitario Insular Materno Infantil, Las Palmas de Gran Canaria, Spain (A.S.R., L.M.G.-C.).; Research Institute of Biomedical and Health Sciences, University of Las Palmas de Gran Canaria, Spain (A.S.R., L.M.G.-C.)., Cárdenas-Reyes I; Cardiology Department, Health in Code SL, A Coruña, Spain (A.A.-S., L.d.l.H.R., I.C.-R., S.G.-H., M.V.-G., I.G.-D., J.P.O.)., Jiménez-Jáimez J; Cardiology Department, Hospital Universitario Virgen de las Nieves, Granada, Spain (R.M.-R., J.J.-J.).; Instituto de Investigación Biosanitaria Instituto de Investigación Biosanitaria de Granada (IBS-GRANADA), Spain (R.M.-R., J.J.-J.)., García-Hernández S; Cardiology Department, Health in Code SL, A Coruña, Spain (A.A.-S., L.d.l.H.R., I.C.-R., S.G.-H., M.V.-G., I.G.-D., J.P.O.).; Inherited Cardiac Diseases Unit, Hospital Universitario San Cecilio, Granada, Spain (S.G.-H.)., Valverde-Gómez M; Cardiology Department, Health in Code SL, A Coruña, Spain (A.A.-S., L.d.l.H.R., I.C.-R., S.G.-H., M.V.-G., I.G.-D., J.P.O.).; Cardiology Department, Hospital Universitario 12 de Octubre, Madrid, Spain (M.V.-G.)., Gómez-Díaz I; Cardiology Department, Health in Code SL, A Coruña, Spain (A.A.-S., L.d.l.H.R., I.C.-R., S.G.-H., M.V.-G., I.G.-D., J.P.O.)., Limeres Freire J; Cardiovascular Imaging Unit and Inherited Cardiac Diseases Unit, Cardiology Department, Vall d'Hebron University Hospital, Barcelona, Spain (J.F.R.-P., J.L.F.).; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, ERN GUARD-Heart, Amsterdam, The Netherlands (J.F.R.-P., J.L.F., J.R.G.-B., P.G.-P.)., García-Pinilla JM; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Instituto de Salud Carlos III, Madrid, Spain (J.F.R.-P., M.G.D., J.M.G.-P., J.R.G.-B., P.G.-P.).; Department of Cardiology, Heart Failure and Inherited Cardiac Diseases Unit, Hospital Universitario Virgen de la Victoria, Instituto de Investigación Biomédica de Málaga (IBIMA), Málaga, Spain (J.M.G.-P.).; Department of Medicine and Dermatology, Universidad de Málaga, Spain (J.M.G.-P.)., Gimeno-Blanes JR; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Instituto de Salud Carlos III, Madrid, Spain (J.F.R.-P., M.G.D., J.M.G.-P., J.R.G.-B., P.G.-P.).; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, ERN GUARD-Heart, Amsterdam, The Netherlands (J.F.R.-P., J.L.F., J.R.G.-B., P.G.-P.).; Department of Cardiology, Inherited Cardiac Diseases Unit, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain (D.L.C., J.R.G.-B.)., Savattis K; Inherited Cardiovascular Diseases Unit, St. Bartholomew's Hospital, Barts Health NHS Trust, London, United Kingdom (H.R., K.S.).; Institute for Cardiovascular Science, University College London, United Kingdom (K.S.).; Biomedical Research Center, National Institute for Health and Care Research (NIHR) University College London Hospitals, United Kingdom (K.S.).; William Harvey Research Institute, Queen Mary University of London, United Kingdom (K.S.)., García-Pavía P; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Instituto de Salud Carlos III, Madrid, Spain (J.F.R.-P., M.G.D., J.M.G.-P., J.R.G.-B., P.G.-P.).; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, ERN GUARD-Heart, Amsterdam, The Netherlands (J.F.R.-P., J.L.F., J.R.G.-B., P.G.-P.).; Department of Cardiology, Heart Failure and Inherited Cardiac Diseases Unit, Hospital Universitario Puerta de Hierro, IDIPHISA, Madrid, Spain (D.d.C.C., P.G.-P., J.P.O.).; Universidad Francisco de Vitoria, Pozuelo de Alarcón, Spain (P.G.-P.).; Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain (P.G.-P., J.P.O.)., Ochoa JP; Cardiology Department, Health in Code SL, A Coruña, Spain (A.A.-S., L.d.l.H.R., I.C.-R., S.G.-H., M.V.-G., I.G.-D., J.P.O.).; Department of Cardiology, Heart Failure and Inherited Cardiac Diseases Unit, Hospital Universitario Puerta de Hierro, IDIPHISA, Madrid, Spain (D.d.C.C., P.G.-P., J.P.O.).; Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain (P.G.-P., J.P.O.).

Publikováno v: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2024 Apr; Vol. 17 (2), pp. e004404. Date of Electronic Publication: 2024 Feb 14.

Differences between familial and sporadic dilated cardiomyopathy: ESC EORP Cardiomyopathy & Myocarditis registry.

Autor: Asselbergs, Folkert W., Sammani, Arjan, Elliott, Perry, Gimeno, Juan R., Tavazzi, Luigi, Tendera, Michael, Kaski, Juan Pablo, Maggioni, Aldo P., Rubis, Pawel P., Jurcut, Ruxandra, Heliö, Tiina, Calò, Leonardo, Sinagra, Gianfranco, Zdravkovic, Marija, Olivotto, Iacopo, Kavoliūnienė, Aušra, Laroche, Cécile, Caforio, Alida L.P., Charron, Philippe

Publikováno v: ESC Heart Failure; Feb2021, Vol. 8 Issue 1, p95-105, 11p

Genetic Causes of Cardiac Disease

Autor: Jeanette Erdmann, Alessandra Moretti

This book provides a comprehensive summary of the latest developments in the field of the genomics of cardiac disease. Written and edited by leading clinicians and scientists involved in the analysis and therapy of genetic cardiac disorders, it disc