Clinical Findings and Prognosis of Danon Disease. An Analysis of the Spanish Multicenter Danon Registry

Autor: López-Sainz Á, Salazar-Mendiguchía J, García-Álvarez A, Campuzano Larrea O, López-Garrido MÁ, García-Guereta L, Fuentes Cañamero ME, Climent Payá V, Peña-Peña ML, Zorio-Grima E, Jordá-Burgos P, Díez-López C, Brugada R, García-Pinilla JM, García-Pavía P

Publikováno v: REVISTA ESPANOLA DE CARDIOLOGIA
r-FISABIO. Repositorio Institucional de Producción Científica
instname
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante

Introduction and objectives: Danon disease (DD) is caused by mutations in the LAMP2 gene. It is considered a multisystemic disease characterized by hypertrophic cardiomyopathy with pre-excitation and extreme hypertrophy, intellectual disability, myop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0077ecf953cdb261ed40e23de40e7a07
https://fundanet.fisabio.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=3076

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.

Impact of SARS-Cov-2 infection in patients with hypertrophic cardiomyopathy: results of an international multicentre registry.

Autor: Gimeno JR; Departamento de Medicina Interna, Universidad de Murcia, Ctra. Finca Buenavista s/n, Campus Ciencias de la Salud, El Palmar, Murcia, 30120, Spain.; European Reference Networks for rare, low prevalence and complex diseases of the heart (ERN GUARD-Heart), Amsterdam, The Netherlands.; Center for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Madrid, Spain., Olivotto I; Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy., Rodríguez AI; Departamento de Medicina Interna, Universidad de Murcia, Ctra. Finca Buenavista s/n, Campus Ciencias de la Salud, El Palmar, Murcia, 30120, Spain.; European Reference Networks for rare, low prevalence and complex diseases of the heart (ERN GUARD-Heart), Amsterdam, The Netherlands., Ho CY; Cardiovascular Division, Brigham and Women's Hospital, Boston, MA, USA., Fernández A; Unidad de Cardiopatías Familiares, Favaloro Foundation University Hospital, Buenos Aires, Argentina., Quiroga A; Unidad de Cardiopatías Familiares, Favaloro Foundation University Hospital, Buenos Aires, Argentina., Espinosa MA; Center for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Madrid, Spain.; Unidad de Cardiopatías Familiares, Hospital General Universitario Gregorio Marañón, Madrid, Spain., Gómez-González C; Center for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Madrid, Spain.; Unidad de Cardiopatías Familiares, Hospital General Universitario Gregorio Marañón, Madrid, Spain., Robledo M; Hospital Universitario Araba (Txagorritxu), Alava, Spain., Tojal-Sierra L; Hospital Universitario Araba (Txagorritxu), Alava, Spain., Day SM; Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, USA., Owens A; Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, USA., Barriales-Villa R; Center for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Madrid, Spain.; Unidad CSUR Cardiopatías Familiares, Complexo Hospitalario Universitario de A Coruña, A Coruña, Spain., Larrañaga JM; Center for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Madrid, Spain.; Unidad CSUR Cardiopatías Familiares, Complexo Hospitalario Universitario de A Coruña, A Coruña, Spain., Rodríguez-Palomares J; Center for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Madrid, Spain.; Department of Cardiology, Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Vall d'Hebron Institut de Recerca (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain., González-Del-Hoyo M; Center for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Madrid, Spain.; Department of Cardiology, Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Vall d'Hebron Institut de Recerca (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain., Piqueras-Flores J; Cardiac Department, Hospital General Universitario de Ciudad Real, Ciudad Real, Spain., Reza N; Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, USA., Chumakova O; Municipal Clinical Hospital #17, Moscow, Russia., Ashley EA; Center for Inherited Heart Disease, Stanford University Medical Center, Stanford, CA, USA., Parikh V; Center for Inherited Heart Disease, Stanford University Medical Center, Stanford, CA, USA., Wheeler M; Center for Inherited Heart Disease, Stanford University Medical Center, Stanford, CA, USA., Jacoby D; Yale New Haven Hospital, New Haven, CT, USA., Pereira AC; Hospital das Clinicas da Univerisidade de Sao Paulo, Sao Paulo, Brazil., Saberi S; Department of Internal Medicine, University of Michigan Hospital, Ann Arbor, MI, USA., Helms AS; Department of Internal Medicine, University of Michigan Hospital, Ann Arbor, MI, USA., Villacorta E; Center for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Madrid, Spain.; Unidad de Cardiopatías Familiares, Servicio de Cardiología, Complejo Asistencial Universitario de Salamanca, Salamanca, Spain.; Gerencia Regional de Salud de Castilla y León (SACYL), Instituto de Investigación Biomédica de Salamanca (IBSAL), Salamanca, Spain.; Departamento de Medicina, Universidad de Salamanca, Salamanca, Spain., Gallego-Delgado M; Center for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Madrid, Spain.; Unidad de Cardiopatías Familiares, Servicio de Cardiología, Complejo Asistencial Universitario de Salamanca, Salamanca, Spain.; Gerencia Regional de Salud de Castilla y León (SACYL), Instituto de Investigación Biomédica de Salamanca (IBSAL), Salamanca, Spain.; Departamento de Medicina, Universidad de Salamanca, Salamanca, Spain., de Castro D; European Reference Networks for rare, low prevalence and complex diseases of the heart (ERN GUARD-Heart), Amsterdam, The Netherlands.; Center for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Madrid, Spain.; Unidad CSUR/ERN Cardiopatias Familiares, Hospital Universitario Puerta Hierro Majadahonda, Madrid, Spain., Domínguez F; European Reference Networks for rare, low prevalence and complex diseases of the heart (ERN GUARD-Heart), Amsterdam, The Netherlands.; Center for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Madrid, Spain.; Unidad CSUR/ERN Cardiopatias Familiares, Hospital Universitario Puerta Hierro Majadahonda, Madrid, Spain., Ripoll-Vera T; Unidad Cardiopatias Familiares, Hospital Universitario Son Llàtzer, Mallorca, Spain., Zorio-Grima E; Center for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Madrid, Spain.; Unidad Cardiopatias Familiares, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Sánchez-Martínez JC; Center for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Madrid, Spain.; Unidad Cardiopatias Familiares, Hospital Universitario y Politécnico La Fe, Valencia, Spain., García-Álvarez A; Center for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Madrid, Spain.; Arrhythmia Section, Cardiology Department, Hospital Clínic, University of Barcelona, Barcelona, Spain.; Institut d'Investigació August Pi i Sunyer (IDIBAPS), Barcelona, Spain., Arbelo E; Center for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Madrid, Spain.; Arrhythmia Section, Cardiology Department, Hospital Clínic, University of Barcelona, Barcelona, Spain.; Institut d'Investigació August Pi i Sunyer (IDIBAPS), Barcelona, Spain., Mogollón MV; Cardiac Department, Hospital San Pedro de Alcantara, Cáceres, Spain., Fuentes-Cañamero ME; Cardiac Department, Badajoz University Hospital, Badajoz, Spain., Grande E; Dilemma Solution S.L, A Coruña, Spain., Peña C; Dilemma Solution S.L, A Coruña, Spain., Monserrat L; Dilemma Solution S.L, A Coruña, Spain., Lakdawala NK; Cardiovascular Division, Brigham and Women's Hospital, Boston, MA, USA.

Publikováno v: ESC heart failure [ESC Heart Fail] 2022 Aug; Vol. 9 (4), pp. 2189-2198. Date of Electronic Publication: 2022 Jun 03.

Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.

Autor: Lopes LR; Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, 62 Huntley St, London WC1E 6DD, UK.; Barts Heart Centre, St. Bartholomew's Hospital, Barts Health NHS Trust, West Smithfield, London EC1A 7BE, UK., Garcia-Hernández S; Health in Code S.L., Cardiology and Scientific Department, As Xubias, s/n Edificio O Fortín, 15006 A Coruña, Spain., Lorenzini M; Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, 62 Huntley St, London WC1E 6DD, UK.; Barts Heart Centre, St. Bartholomew's Hospital, Barts Health NHS Trust, West Smithfield, London EC1A 7BE, UK., Futema M; Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, 62 Huntley St, London WC1E 6DD, UK., Chumakova O; Federal Scientific Clinical Centre of Federal Medical and Biological Agency, 30, Volokolamskoe Shosse, Moscow, Russia.; Department of Cardiology, City Clinical Hospital, #17, Volynska st., 7, Moscow, Russia., Zateyshchikov D; Federal Scientific Clinical Centre of Federal Medical and Biological Agency, Genetic Laboratory, Moscow, Russia., Isidoro-Garcia M; Inherited Cardiac Disease Unit (CSUR), Biochemistry Department, Instituto de Investigación Biomédica de Salamanca (IBSAL), Complejo Asistencial Universitario de Salamanca, Gerencia Regional de Salud de Castilla y León (SACYL), Medicine Department, Facultad de Medicina, Universidad de Salamanca, Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Paseo de San Vicente, 58-182, 37007 Salamanca, Madrid, Spain., Villacorta E; Inherited Cardiac Disease Unit (CSUR), Cardiology Department, Instituto de Investigación Biomédica de Salamanca (IBSAL), Complejo Asistencial Universitario de Salamanca, Gerencia Regional de Salud de Castilla y León (SACYL), Medicine Department, Facultad de Medicina, Universidad de Salamanca, Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Paseo de San Vicente, 58-182, 37007 Salamanca and Av. Monforte de Lemos, 3-5. Pabellón 11. Planta 0 28029, Madrid, Spain., Escobar-Lopez L; Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, CIBERCV, Av. Monforte de Lemos, 3-5. Pabellón 11. Planta 0 28029 and Calle Joaquín Rodrigo, 1, 28222 Majadahonda, Madrid, Spain.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART)., Garcia-Pavia P; Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, CIBERCV, Av. Monforte de Lemos, 3-5. Pabellón 11. Planta 0 28029 and Calle Joaquín Rodrigo, 1, 28222 Majadahonda, Madrid, Spain.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART).; Universidad Francisco de Vitoria (UFV), Pozuelo de Alarcón, Carretera Pozuelo a Majadahonda, Km 1.800, 28223 Madrid, Spain., Bilbao R; Heart Failure and Pulmonary Hypertension Unit, Hospital Alvaro Cunqueiro, Complexo Hospitalario Universitario de Vigo, Estrada de Clara Campoamor, 341, 36213 Vigo, Pontevedra, Spain., Dobarro D; Heart Failure and Pulmonary Hypertension Unit, Hospital Alvaro Cunqueiro, Complexo Hospitalario Universitario de Vigo, Estrada de Clara Campoamor, 341, 36213 Vigo, Pontevedra, Spain., Sandin-Fuentes M; Hospital Clínico Universitario de Valladolid, Cardiology, Av. Ramón y Cajal, 3, 47003 Valladolid, Spain., Catalli C; Osakidetza Basque Health Service, Cruces University Hospital, Department of Genetics, Biocruces Bizkaia Health Research Institute, Cruces Plaza, 48903 Barakaldo, Bizkaia, Spain., Gener Querol B; Osakidetza Basque Health Service, Cruces University Hospital, Department of Genetics, Biocruces Bizkaia Health Research Institute, Cruces Plaza, 48903 Barakaldo, Bizkaia, Spain., Mezcua A; Heart Failure and Familial Heart Diseases Unit, Cardiology Service, Hospital Universitario Virgen de la Victoria, IBIMA, Campus de Teatinos, S/N, 29010 Málaga, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Av. Monforte de Lemos, 3-5. Pabellón 11. Planta 0 28029 Madrid, Spain., Garcia Pinilla J; Heart Failure and Familial Heart Diseases Unit, Cardiology Service, Hospital Universitario Virgen de la Victoria, IBIMA, Campus de Teatinos, S/N, 29010 Málaga, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Av. Monforte de Lemos, 3-5. Pabellón 11. Planta 0 28029 Madrid, Spain., Bloch Rasmussen T; Department of Cardiology, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99 DK-8200 Aarhus, Denmark., Ferreira-Aguar A; Inherited Cardiac Diseases Unit, Cardiology Department, Hospital Clínico Universitario Lozano Blesa, Avda, Calle de San Juan Bosco, 15, 50009 Zaragoza, Spain., Revilla-Martí P; Inherited Cardiac Diseases Unit, Cardiology Department, Hospital Clínico Universitario Lozano Blesa, Avda, Calle de San Juan Bosco, 15, 50009 Zaragoza, Spain., Basurte Elorz MT; Complejo Hospitalario de Navarra, Calle de Irunlarrea, 3, 31008 Pamplona, Navarra, Spain., Bautista Paves A; Hospital Universitario San Cecilio Granada, Av. del Conocimiento, s/n, 18016 Granada, Cardiology., Ramon Gimeno J; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART).; Hospital Clínico Universitario Virgen de la Arrixaca, Inherited Cardiac Diseases Unit, Department of Cardiology, Ctra. Madrid-Cartagena, s/n, 30120 El Palmar, Murcia, Spain., Figueroa AV; Hospital Privado Universitario de Córdoba, Naciones Unidas 346, Córdoba, Argentina., Franco-Gutierrez R; Cardiology Department, Hospital Universitario Lucus Augusti, Lugo Biodiscovery HULA-USC Research Group, Institute for Health Research of Santiago de Compostela IDIS, s/n A, Travesía da Choupana, 15706 Santiago de Compostela, A Coruña., Fuentes-Cañamero ME; Hospital Universitario Infanta Cristina, Cardiology, Av. de Elvas, s/n, 06080 Badajoz, Spain., Martinez Moreno M; Hospital General Elche, Carrer Almazara, 11, 03203 Elche, Alicante., Ortiz-Genga M; Health in Code S.L., Scientific Department, As Xubias, s/n Edificio O Fortín, 15006 A Coruña, Spain., Piqueras-Flores J; Cardiology Department, Inherited Cardiovascular Diseases Unit, Hospital General Universitario de Ciudad Real, Calle Obispo Rafael Torija, s/n, 13005 Ciudad Real, Spain., Analia Ramos K; Hospital Centenario, Urquiza 3101, S2002 KDT, Santa Fe, Rosario, Argentina., Rudzitis A; Pauls Stradins Clinical University Hospital, Pilsoņu iela 13, Zemgales priekšpilsēta, Rīga, LV-1002, Latvia., Ruiz-Guerrero L; Hospital Universitario Marqués de Valdecilla (IDIVAL), Av. de Valdecilla, 25, 39008 Santander, Spain., Stein R; School of Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Av. Paulo Gama, 110 Secretaria de Comunicação Social - 8º andar - Reitoria - Farroupilha, Porto Alegre - RS 90040-060, Brazil., Triguero-Bocharán M; Cardiology Department, Inherited Cardiovascular Diseases Unit, Hospital General Universitario de Ciudad Real, Calle Obispo Rafael Torija, s/n, 13005 Ciudad Real, Spain., de la Higuera L; Health in Code S.L., Scientific Department, As Xubias, s/n Edificio O Fortín, 15006 A Coruña, Spain., Ochoa JP; Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, CIBERCV, Av. Monforte de Lemos, 3-5. Pabellón 11. Planta 0 28029 and Calle Joaquín Rodrigo, 1, 28222 Majadahonda, Madrid, Spain.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART)., Abu-Bonsrah D; Murdoch Research Childrens Research Institute, Royal Melbourne Hospital, Parkville, VIC 3052, Australia., Kwok CYT; Murdoch Research Childrens Research Institute, Royal Melbourne Hospital, Parkville, VIC 3052, Australia., Smith JB; Murdoch Research Childrens Research Institute, Royal Melbourne Hospital, Parkville, VIC 3052, Australia., Porrello ER; Murdoch Research Childrens Research Institute, Royal Melbourne Hospital, Parkville, VIC 3052, Australia.; Dept. of Physiology, University of Melbourne, Parkville, VIC 3052, Australia., Akhtar MM; Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, 62 Huntley St, London WC1E 6DD, UK.; Barts Heart Centre, St. Bartholomew's Hospital, Barts Health NHS Trust, West Smithfield, London EC1A 7BE, UK., Jager J; Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, 62 Huntley St, London WC1E 6DD, UK., Ashworth M; Department of Histopathology, Great Ormond St Hospital for Children, London WC1N 3NN, UK., Syrris P; Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, 62 Huntley St, London WC1E 6DD, UK., Elliott DA; Murdoch Research Childrens Research Institute, Royal Melbourne Hospital, Parkville, VIC 3052, Australia.; Dept. of Physiology, University of Melbourne, Parkville, VIC 3052, Australia., Monserrat L; Health in Code S.L., Scientific Department, As Xubias, s/n Edificio O Fortín, 15006 A Coruña, Spain., Elliott PM; Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, 62 Huntley St, London WC1E 6DD, UK.; Barts Heart Centre, St. Bartholomew's Hospital, Barts Health NHS Trust, West Smithfield, London EC1A 7BE, UK.

Publikováno v: European heart journal [Eur Heart J] 2021 Aug 21; Vol. 42 (32), pp. 3063-3073.

Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy.

Autor: Ochoa JP; Health in Code S.L., Scientific Department, A Coruña, Spain; Universidade da Coruña, GRINCAR (Cardiovascular Research Group), A Coruña, Spain. Electronic address: juanpablo.ochoa@healthincode.com., Sabater-Molina M; Hospital Clínico Universitario Virgen de la Arrixaca, Inherited Cardiac Diseases Unit, Department of Cardiology, Murcia, Spain., García-Pinilla JM; Hospital Universitario Virgen de la Victoria, Cardiology, Heart Failure and Inherited Cardiac Diseases Unit, Málaga, Spain., Mogensen J; Odense Universitetshospital, Cardiology, Odense, Denmark., Restrepo-Córdoba A; Hospital Universitario Puerta de Hierro Majadahonda, Cardiology, Heart Failure and Inherited Cardiac Diseases Unit, Madrid, Spain; European Reference Network on Rare and Complex Diseases of the Heart., Palomino-Doza J; Hospital Universitario 12 de Octubre, Cardiology, Madrid, Spain., Villacorta E; Hospital Universitario de Salamanca, Cardiology, Salamanca, Spain., Martinez-Moreno M; Hospital General Universitario de Elche, Cardiology, Elche, Spain., Ramos-Maqueda J; Hospital Universitario Virgen de Valme, Cardiology, Sevilla, Spain., Zorio E; Hospital Universitario La Fe, Valencia, Spain., Peña-Peña ML; Universidade da Coruña, GRINCAR (Cardiovascular Research Group), A Coruña, Spain; Hospital Universitario Virgen del Rocío, Cardiology, Sevilla, Spain., García-Granja PE; Hospital Clínico Universitario de Valladolid, Cardiology, Valladolid, Spain., Rodríguez-Palomares JF; Hospital Vall d'Hebron, Cardiology, Barcelona, Spain., Cárdenas-Reyes IJ; Health in Code S.L., Scientific Department, A Coruña, Spain., de la Torre-Carpente MM; Hospital Universitario Rio Hortega, Cardiology, Valladolid, Spain., Bautista-Pavés A; Hospital Universitario San Cecilio, Cardiology, Granada, Spain., Akhtar MM; Saint Bartholomew's Hospital, Barts Heart Centre, London, United Kingdom; European Reference Network on Rare and Complex Diseases of the Heart., Cicerchia MN; Health in Code S.L., Scientific Department, A Coruña, Spain., Bilbao-Quesada R; Complexo Hospitalario Universitario de Vigo, Cardiology, Vigo, Spain., Mogollón-Jimenez MV; Hospital San Pedro de Alcántara, Cardiology, Cáceres, Spain., Salazar-Mendiguchía J; Health in Code S.L., Scientific Department, A Coruña, Spain; Universitat Autónoma de Barcelona, Departament de Genetica i de Microbiologia, Barcelona, Spain., Mesa Latorre JM; Hospital Universitario Príncipe de Asturias, Clinical Genetics, Alcalá de Henares, Spain., Arnaez B; Hospital Sierrallana, Cardiology, Torrelavega, Spain., Olavarri-Miguel I; Hospital Universitario Marqués de Valdecilla, Cardiology, Santander, Spain., Fuentes-Cañamero ME; Hospital Universitario Infanta Cristina, Cardiology, Badajoz, Spain., Lamounier A Jr; Health in Code S.L., Scientific Department, A Coruña, Spain; Universidade da Coruña, GRINCAR (Cardiovascular Research Group), A Coruña, Spain., Pérez Ruiz JM; Hospital Regional Universitario 'Carlos Haya,' Cardiology, Málaga, Spain., Climent-Payá V; Hospital General Universitario de Alicante, Cardiology, Alicante, Spain; Alicante Institute for Health and Biomedical Research (ISABIAL-FIDABIO Foundation), Alicante, Spain., Pérez-Sanchez I; Hospital Clínico Universitario Virgen de la Arrixaca, Inherited Cardiac Diseases Unit, Department of Cardiology, Murcia, Spain., Trujillo-Quintero JP; Health in Code S.L., Scientific Department, A Coruña, Spain., Lopes LR; Saint Bartholomew's Hospital, Barts Heart Centre, London, United Kingdom; European Reference Network on Rare and Complex Diseases of the Heart; University College London Institute for Cardiovascular Science, London, United Kingdom., Repáraz-Andrade A; Complexo Hospitalario Universitario de Vigo, Genetics and Molecular Pathology, Vigo, Spain., Marín-Iglesias R; Hospital Universitario Puerta del Mar, Cádiz, Spain., Rodriguez-Vilela A; Complexo Hospitalario Arquitecto Marcide, Cardiology, El Ferrol, Spain., Sandín-Fuentes M; Hospital Clínico Universitario de Valladolid, Cardiology, Valladolid, Spain., Garrote JA; Hospital Universitario Rio Hortega, Molecular Genetics Laboratory, Valladolid, Spain., Cortel-Fuster A; Hospital Provincial Castellón, Cardiology, Castellon, Spain., Lopez-Garrido M; Hospital Clínico Universitario Virgen de la Arrixaca, Inherited Cardiac Diseases Unit, Department of Cardiology, Murcia, Spain., Fontalba-Romero A; Hospital Universitario Marqués de Valdecilla, Genetics, Santander, Spain., Ripoll-Vera T; Hospital Son Llatzer, Cardiology, Inherited Cardiomyopathies Unit, Palma de Mallorca, Spain., Llano-Rivas I; Hospital Universitario Cruces, Clinical Genetics, Barakaldo, Spain., Fernandez-Fernandez X; Health in Code S.L., Scientific Department, A Coruña, Spain., Isidoro-García M; Universidad de Salamanca, Medicine, Salamanca, Spain; Hospital Universitario de Salamanca, Molecular Genetics and Pharmacogenetics, Salamanca, Spain., Garcia-Giustiniani D; Health in Code S.L., Scientific Department, A Coruña, Spain., Barriales-Villa R; Instituto de Investigación Biomédica de A Coruña (INIBIC), A Coruña, Spain; Complexo Hospitalario Universitario A Coruña, Cardiology, A Coruña, Spain., Ortiz-Genga M; Health in Code S.L., Scientific Department, A Coruña, Spain; Universidade da Coruña, GRINCAR (Cardiovascular Research Group), A Coruña, Spain., García-Pavía P; Hospital Universitario Puerta de Hierro Majadahonda, Cardiology, Heart Failure and Inherited Cardiac Diseases Unit, Madrid, Spain; European Reference Network on Rare and Complex Diseases of the Heart., Elliott PM; European Reference Network on Rare and Complex Diseases of the Heart; Saint Bartholomew's Hospital, Barts Heart Centre, London, United Kingdom; University College London Institute for Cardiovascular Science, London, United Kingdom., Gimeno JR; Hospital Clínico Universitario Virgen de la Arrixaca, Inherited Cardiac Diseases Unit, Department of Cardiology, Murcia, Spain; European Reference Network on Rare and Complex Diseases of the Heart., Monserrat L; Health in Code S.L., Scientific Department, A Coruña, Spain.

Publikováno v: Journal of the American College of Cardiology [J Am Coll Cardiol] 2018 Nov 13; Vol. 72 (20), pp. 2457-2467.