المؤلفون: Limeres Freire, Javier

Thesis Advisors: Rodríguez Palomares, Jose Fernando

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Miocardiopatia arritmogènica, Arrhythmogenic cardiomyopathy, Miocardiopatía arritmogénica, Ciències de la Salut

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/691733

المؤلفون: Jorge A. Ortega-Hernández, Mario R. García-Arias, Jardiel Argüello-Bolaños, Manlio F. Márquez-Murillo, Rodrigo Gopar-Nieto, Ángel A. Priego-Ranero, Daniel Sierra-Lara-Martínez

المصدر: Archivos de Cardiología de México, Vol 94, Iss 3 (2024)

مصطلحات موضوعية: Miocardiopatía arritmogénica. Acoplamiento ventricular-arterial derecho. Taquicardia ventricular. Ecocardiografía., Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://www.archivoscardiologia.com/frame_esp.php?id=733; https://doaj.org/toc/1405-9940; https://doaj.org/toc/1665-1731

URL الوصول: https://doaj.org/article/b0fb59cb02c5462da4b55b01eba3cfce

المؤلفون: De Toffol, Gianluca, Cecconi, Alberto, Caballero, Paloma, Alfonso, Fernando, Jiménez Borreguero, Luis Jesús

المصدر: Revista de Ecocardiografía Práctica y Otras Técnicas de Imagen Cardíaca; Vol. 6 No. 3 (2023): Journal of Practical Echocardiography and Other Cardiac Imaging Techniques; 19-22 ; Revista de Ecocardiografía Práctica y Otras Técnicas de Imagen Cardíaca; Vol. 6 Núm. 3 (2023): Revista de Ecocardiografía Práctica y Otras Técnicas de Imagen Cardíaca; 19-22 ; 2529-976X

مصطلحات موضوعية: arrhythmogenic cardiomyopathy, family screening, myocardial deformation, miocardiopatia arritmogenica, cribado familiar, deformación miocárdica

وصف الملف: application/pdf

Relation: https://imagenretic.org/RevEcocarPract/article/view/632/509; https://imagenretic.org/RevEcocarPract/article/view/632

الاتاحة: https://imagenretic.org/RevEcocarPract/article/view/632
https://doi.org/10.37615/retic.v6n3a4

المؤلفون: Cátia Costa Oliveira, Catarina Vieira, Carlos Galvão Braga, Juliana Martins, Isabel Durães Campos, Nuno Bettencourt, Sérgia Rocha, Jorge Marques

المصدر: Revista Portuguesa de Cardiologia, Vol 42, Iss 1, Pp 71.e1-71.e6 (2023)

مصطلحات موضوعية: Síncope, Miocardiopatia arritmogénica do ventrículo direito, Morte súbita cardíaca, Atletas, Desmocolina-2, Diseases of the circulatory (Cardiovascular) system, RC666-701

Relation: http://www.sciencedirect.com/science/article/pii/S0870255122004875; https://doaj.org/toc/0870-2551; https://doaj.org/article/9481f6d940074a59b3cad7878ee6f565

الاتاحة: https://doi.org/10.1016/j.repc.2019.08.012
https://doaj.org/article/9481f6d940074a59b3cad7878ee6f565

المؤلفون: Costa, João Pedro Ramos de Azevedo Cardoso

المساهمون: Almeida, Ana Gomes, Repositório da Universidade de Lisboa

مصطلحات موضوعية: Miocardiopatia arritmogénica, Taquicardia ventricular, Síncope, Paragem cardíaca, Morte súbita cardíaca, Cardiologia, Domínio/Área Científica::Ciências Médicas

وصف الملف: application/pdf

الاتاحة: http://hdl.handle.net/10451/52435

المؤلفون: Ruiz-Salas, Amalio

Thesis Advisors: Jiménez-Navarro, Manuel Francisco, Medicina y Dermatología

مصطلحات موضوعية: Miocarditis - Tesis doctorales, Miocardiopatia arritmogenica, genética, clínica

URL الوصول: http://hdl.handle.net/10803/620534

المؤلفون: Moncayo Arlandi, Javier

Thesis Advisors: Brugada Terradellas, Ramon, Díez Juan, Antonio, Departament de Bioquímica i Biologia Molecular

مصطلحات موضوعية: miocardiopatía arritmogénica, modelo animal, entrenamiento intensivo, placofilina-2, desmosoma, UNESCO::CIENCIAS DE LA VIDA, UNESCO::CIENCIAS MÉDICAS

URL الوصول: http://hdl.handle.net/10550/52648

المؤلفون: Moncayo Arlandi, Javier

Thesis Advisors: Brugada Terradellas, Ramon, Díez Juan, Antonio, Departament de Bioquímica i Biologia Molecular

مصطلحات موضوعية: miocardiopatía arritmogénica, modelo animal, entrenamiento intensivo, placofilina-2, desmosoma, UNESCO::CIENCIAS DE LA VIDA, UNESCO::CIENCIAS MÉDICAS

URL الوصول: http://hdl.handle.net/10803/570914

المؤلفون: Moncayo Arlandi, Javier

Thesis Advisors: Brugada Terradellas, Ramon, Díez Juan, Antonio, Departament de Bioquímica i Biologia Molecular

مصطلحات موضوعية: miocardiopatía arritmogénica, modelo animal, entrenamiento intensivo, placofilina-2, desmosoma, UNESCO::CIENCIAS DE LA VIDA, UNESCO::CIENCIAS MÉDICAS

URL الوصول: http://hdl.handle.net/10550/52648

المؤلفون: Blandenier de Suárez, Claudia Antonieta, López-Loyo, Enrique Santiago

المصدر: Gaceta Médica de Caracas; Vol. 129 Núm. 1 (2021); 172-191 ; 2739-0012 ; 0367-4762

مصطلحات موضوعية: Miocardiopatía arritmogénica, displasia del ventrículo derecho, arritmias cardíacas, desmosomas

وصف الملف: application/pdf

Relation: http://saber.ucv.ve/ojs/index.php/rev_gmc/article/view/21280/144814487577; http://190.169.94.12/ojs/index.php/rev_gmc/article/view/21280

الاتاحة: http://190.169.94.12/ojs/index.php/rev_gmc/article/view/21280
https://doi.org/10.47307/gmc.v129i1.21280

المؤلفون: Jiménez Serrano, Santiago

Thesis Advisors: Castells Ramón, Francisco Sales, Millet Roig, José, Universitat Politècnica de València. Departamento de Ingeniería Electrónica - Departament d'Enginyeria Electrònica

مصطلحات موضوعية: Neural networks, Atrial fibrillation, Arrhythmogenic cardiomyopathy, Signal processing, Feature selection, ECG, Electrocardiograma, Detección de arritmias, Clasificación, Machine learning, Aprendizaje automático, Redes neuronales, Support Vector Machines, Naïve Bayes, Fibrilación auricular, Miocardiopatía Arritmogénica, Procesado de señal, Selección de características, TECNOLOGIA ELECTRONICA

الاتاحة: http://hdl.handle.net/10251/196826

المؤلفون: Corte-Real, Ana Catarina

المساهمون: Almeida, Ana G., Repositório da Universidade de Lisboa

مصطلحات موضوعية: Miocardiopatia arritmogénica, Ventrículo direito, Disrritmias, Coração do atleta, Ressonância magnética cardíaca, Cardiodesfibrilhador implantável (CDI), Domínio/Área Científica::Ciências Médicas

وصف الملف: application/pdf

الاتاحة: http://hdl.handle.net/10451/23816

المؤلفون: Doménech Dauder, Sofía

المصدر: RiuNet. Repositorio Institucional de la Universitat Politécnica de Valéncia
instname

مصطلحات موضوعية: Vía Wnt, Arrythmogenic cardiomyopathy (ACM), Wnt pathway, Grado en Biotecnología-Grau en Biotecnologia, Muerte súbita (MS), Miocardiopatía arritmogénica (MCA), Desmosome, MICROBIOLOGIA, Desmosoma, Sudden death (SD)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::001c0cd8f02bcaf24041d01bdded3982
https://hdl.handle.net/10251/184338

المؤلفون: Segura Rodríguez, Diego Ginés

المساهمون: Jiménez Jáimez, Juan, Bermúdez Jiménez, Francisco José, Universidad de Granada. Programa de Doctorado en Medicina Clínica y Salud Pública

مصطلحات موضوعية: Miocardiopatía arritmogénica, Diagnóstico, Pronóstico, Imagen multimodalidad

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1648::e0656dbcbe9458d25efa4033478f4e82
https://hdl.handle.net/10481/76830

المؤلفون: Lin Wong, Liliane

المصدر: RiuNet. Repositorio Institucional de la Universitat Politécnica de Valéncia
instname

مصطلحات موضوعية: Keratinocytes, DNA methylation, Arrhythmogenic cardiomyopathy, Queratinocitos, Desmosome, Desmoplakin, Desmosoma, Miocardiopatía arritmogénica, Metilación de DNA, Desmoplaquina, BIOQUIMICA Y BIOLOGIA MOLECULAR, Epigenetics, Máster Universitario en Biotecnología Biomédica-Màster Universitari en Biotecnologia Biomèdica, Epigenética, DSP

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7c6ce8ba8a377372015a162c301f4185
https://hdl.handle.net/10251/151332

المؤلفون: Rucinski Calderón, Cynthia

المساهمون: Yunis Londoño, Juan José, Patología Molecular

المصدر: Repositorio UN
Universidad Nacional de Colombia
instacron:Universidad Nacional de Colombia

مصطلحات موضوعية: 612 - Fisiología humana [610 - Medicina y salud], Cardiomyopathy, Arrhythmogenic cardiomyopathy, Miocardiopatía, Miocardiopatía hipertrófica, Colombia, Genética humana, Genética, Hypertrophic cardiomyopathy, Miocardiopatía arritmogénica, Channelopathy, Genetics, 576 - Genética y evolución [570 - Biología], 610 - Medicina y salud, Brugada syndrome, Canalopatía, Síndrome de Brugada, Long QT syndrome, Ciencias médicas, Síndrome de QT largo

وصف الملف: 1 recurso en linea (113 paginas); application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::12897640168ae88e44324c247c5ac1bf
https://repositorio.unal.edu.co/handle/unal/79466

المؤلفون: Gama, Mafalda, Cardoso, Isabel, Palma Anselmo, Mónica, Aguiar Rosa, Sílvia, Gaspar da Costa, Pedro, Fortuna, Philip

مصطلحات موضوعية: Arrhythmogenic Left Ventricular Cardiomyopathy, Cardiopulmonary Resuscitation, Extracorporeal Membrane Oxygenation, Heart Arrest/therapy, Miocardiopatia Arritmogénica do Ventrículo Esquerdo, Oxigenação por Membrana Extracorporal, Paragem Cardíaca/tratamento, Ressuscitação Cardiopulmonar

وصف الملف: application/pdf

Relation: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/19624; https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/19624/15152

الاتاحة: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/19624

المؤلفون: Rucinski Calderón, Cynthia

المساهمون: Yunis Londoño, Juan José, Patología Molecular

مصطلحات موضوعية: 610 - Medicina y salud::612 - Fisiología humana, 570 - Biología::576 - Genética y evolución, 610 - Medicina y salud, Miocardiopatía, Canalopatía, Miocardiopatía hipertrófica, Miocardiopatía arritmogénica, Síndrome de QT largo, Síndrome de Brugada, Colombia, Genética, Cardiomyopathy, Channelopathy, Hypertrophic cardiomyopathy, Arrhythmogenic cardiomyopathy, Long QT syndrome, Brugada syndrome, Genetics, Genética humana, Ciencias médicas

وصف الملف: 1 recurso en linea (113 paginas); application/pdf

Relation: RedCol; 1. Teo R, Gollop ND, Baig M, Uppal H, Chandran S, Potluri R. The burden and trends of psychiatric co-morbidities amongst patients with cardiomyopathy. Int J Cardiol. 2014;174(2):398-399. doi:10.1016/j.ijcard.2014.04.062; 2. Cahill TJ, Ashrafian H, Watkins H. Genetic cardiomyopathies causing heart failure. Circ Res. 2013;113(6):660-675. doi:10.1161/CIRCRESAHA.113.300282; 3. Stefan N. The Failing Heart — An Engine Out of Fuel. N Engl J Med. 2007;356(11):1140-1151.; 4. Basso C, Aguilera B, Banner J, et al. Guidelines for autopsy investigation of sudden cardiac death: 2017 update from the Association for European Cardiovascular Pathology. Virchows Arch. 2017. doi:10.1007/s00428-017-2221-0; 5. Zheng Z, Croft JB, Giles WH, Mensah G a. Clinical Investigation and Reports Sudden Cardiac Death in the United States , 1989 to 1998. Circulation. 2001:2158-2163.; 6. Hayashi M, Shimizu W, Albert CM. The Spectrum of Epidemiology Underlying Sudden Cardiac Death. Circ Res. 2015;116(12):1887-1906. doi:10.1161/CIRCRESAHA.116.304521; 7. Ackerman MJ, Priori SG, Willems S, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Hear Rhythm. 2011;8(8):1308-1339. doi:10.1016/j.hrthm.2011.05.020; 8. Koboldt DC, Steinberg KM, Larson DE, Wilson RK, Mardis E. The Next-Generation Sequencing Revolution and Its Impact on Genomics. Cell. 2014;155(1):27-38. doi:10.1016/j.cell.2013.09.006.; 9. Bahassi EM, Stambrook PJ. Next-generation sequencing technologies: Breaking the sound barrier of human genetics. Mutagenesis. 2014;29(5):303-310. doi:10.1093/mutage/geu031; 11. Mizusawa Y. Recent advances in genetic testing and counseling for inherited arrhythmias. J Arrhythmia. 2016;32(5):389-397. doi:10.1016/j.joa.2015.12.009; 12. McKenna WJ, Maron BJ, Thiene G. Classification, Epidemiology, and Global Burden of Cardiomyopathies. Circ Res. 2017;121(7):722-730. doi:10.1161/CIRCRESAHA.117.309711; 13. Arbustini E, Narula N, Dec GW, et al. The MOGE(S) classification for a phenotype-genotype nomenclature of cardiomyopathy: Endorsed by the world heart federation. Glob Heart. 2013;8(4):355-382. doi:10.1016/j.gheart.2013.11.001; 14. Giraldo G. CA, Mesa Cock A, García Jaramillo S, Hurtado A. MV. Muerte súbita. Estudio prospectivo en Medellín, Colombia, 1982. Bol La Of Sanit Panam. 1984;96(6):532-550.; 15. Deo R, Albert CM. Epidemiology and genetics of sudden cardiac death. Circulation. 2012;125(4):620-637. doi:10.1161/CIRCULATIONAHA.111.023838; 16. Magi S, Lariccia V, Maiolino M, Amoroso S, Gratteri S. Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathies. J Biomed Sci. 2017;24(1):56. doi:10.1186/s12929-017-0364-6; 17. Hershberger RE, Morales A, Cowan J. Is Left Ventricular Noncompaction a Trait, Phenotype, or Disease?: The Evidence Points to Phenotype. Circ Cardiovasc Genet. 2017;10(6):1-3. doi:10.1161/CIRCGENETICS.117.001968; 18. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424. doi:10.1038/gim.2015.30; 19. Hershberger RE, Givertz MM, Ho CY, et al. Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018;20(9):899-909. doi:10.1038/s41436-018-0039-z; 20. Mademont-Soler I, Mates J, Yotti R, et al. Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy. PLoS One. 2017;12(8):1-23. doi:10.1371/journal.pone.0181465; 21. Hertz CL, Christiansen SL, Larsen MK, et al. Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases. Eur J Hum Genet. 2015;(August):1-6. doi:10.1038/ejhg.2015.198; 22. Hertz CL, Christiansen SL, Ferrero-Miliani L, et al. Next-generation sequencing of 100 candidate genes in young victims of suspected sudden cardiac death with structural abnormalities of the heart. Int J Legal Med. 2016;130(1):91-102. doi:10.1007/s00414-015-1261-8; 23. Bagnall RD, Weintraub RG, Ingles J, et al. A Prospective Study of Sudden Cardiac Death among Children and Young Adults. N Engl J Med. 2016;374(25):2441-2452. doi:10.1056/NEJMoa1510687; 24. Whiffin N, Walsh R, Govind R, et al. CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation. Genet Med. 2018;00(December 2017):1-9. doi:10.1038/gim.2017.258; 25. Robyns T, Kuiperi C, Breckpot J, et al. Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy. Eur J Hum Genet. 2017;25(12):1313-1323. doi:10.1038/s41431-017-0004-3; 26. Schwartz, Peter J. Crotti, Lia. Insolia R. Long QT Syndrome: From Genetics to Management. 2013;5(4):868-877. doi:10.1161/CIRCEP.111.962019.Long; 27. Gaetano Vacantia, Riccardo Maragnaa, Andrea Mazzantia, b and SGP. Genetic causes of sudden cardiac death in children: inherited arrhythmogenic diseases. Curr Opin Pediatr. 2017;29(5):552-559. doi:10.1097/HCO.0000000000000391; 28. Mazzanti A, Underwood K, Nevelev D, Kofman S, Priori SG. The new kids on the block of arrhythmogenic disorders: Short QT syndrome and early repolarization. J Cardiovasc Electrophysiol. 2017;(1):1-28. doi:10.1111/jce.13265; 29. Fernández-Falgueras A, Sarquella-Brugada G, Brugada J, Brugada R, Campuzano O. Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances. Biology (Basel). 2017;6(1):7. doi:10.3390/biology6010007; 30. Gehi AK, Duong TD, Metz LD, Gomes JA, Mehta D. Risk stratification of individuals with the Brugada electrocardiogram: a meta-analysis. J Cardiovasc Electrophysiol. 2006;17(6):577-583. doi:10.1111/j.1540-8167.2006.00455.x; 31. Polovina MM, Vukicevic M, Banko B, Lip GYH, Potpara TS. Brugada syndrome: A general cardiologist’s perspective. Eur J Intern Med. 2017. doi:10.1016/j.ejim.2017.06.019; 32. Sumitomo N. Current topics in catecholaminergic polymorphic ventricular tachycardia. J Arrhythmia. 2016;32(5):344-351. doi:10.1016/j.joa.2015.09.008; 33. Refaat MM, Hassanieh S, Scheinman M. Catecholaminergic Polymorphic Ventricular Tachycardia. Card Electrophysiol Clin. 2016;8(1):233-237. doi:10.1016/j.ccep.2015.10.035; 34. Sen-Chowdhry S, Morgan RD, Chambers JC, McKenna WJ. Arrhythmogenic Cardiomyopathy: Etiology, Diagnosis, and Treatment. Annu Rev Med. 2010;61(1):233-253. doi:10.1146/annurev.med.052208.130419; 35. Corrado D, Link MS, Calkins H. Arrhythmogenic Right Ventricular Cardiomyopathy. N Engl J Med. 2017;376(1):61-72. doi:10.1056/NEJMra1509267; 36. Marcus FI, McKenna WJ, Sherrill D, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia. Eur Heart J. 2010;31(7):806-814. doi:10.1093/eurheartj/ehq025; 37. Corrado D, Basso C, Judge DP. Arrhythmogenic Cardiomyopathy. Circ Res. 2017;121(7). doi:10.1016/j.ccep.2011.02.015; 38. Finocchiaro G, Papadakis M, Robertus JL, et al. Etiology of Sudden Death in Sports Insights from a United Kingdom Regional Registry. J Am Coll Cardiol. 2016;67(18):2108-2115. doi:10.1016/j.jacc.2016.02.062; 39. Austin KM, Trembley MA, Chandler SF, et al. Molecular mechanisms of arrhythmogenic cardiomyopathy. Nat Rev Cardiol. 2019;16(9):519-537. doi:10.1038/s41569-019-0200-7; 40. Biagini E, Coccolo F, Ferlito M, et al. Dilated-hypokinetic evolution of hypertrophic cardiomyopathy: Prevalence, incidence, risk factors, and prognostic implications in pediatric and adult patients. J Am Coll Cardiol. 2005;46(8):1543-1550. doi:10.1016/j.jacc.2005.04.062; 41. Marian AJ, Braunwald E. Hypertrophic Cardiomyopathy. Circ Res. 2017;121(7):749-770. doi:10.1161/CIRCRESAHA.117.311059; 42. Bick AG, Flannick J, Ito K, et al. Burden of rare sarcomere gene variants in the framingham and jackson heart study cohorts. Am J Hum Genet. 2012;91(3):513-519. doi:10.1016/j.ajhg.2012.07.017; 43. Sabater-Molina M, Pérez-Sánchez I, Hernández del Rincón JP, Gimeno JR. Genetics of hypertrophic cardiomyopathy: A review of current state. Clin Genet. 2017;(November 2016):1-12. doi:10.1111/cge.13027; 44. Oficina de Tecnología de la Información y la Comunicación – OTIC. Ministerio de Salud y Protección Social. Lineamiento Técnico para el Registro y envío de los datos del Registro Individual de Prestaciones de Salud – RIPS, desde las Instituciones Prestadoras de Servicios de Salud a las EAPB. 2019.; 45. Burgos M, Arenas A, Cabrera R. Semiconductor Whole Exome Sequencing for the Identification of Genetic Variants in Colombian Patients Clinically Diagnosed with Long QT Syndrome. Mol Diagn Ther. 2016;20(4):353-362. doi:10.1007/s40291-016-0207-2; 46. Charron P, Arad M, Arbustini E, et al. Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2010;31(22):2715-2726. doi:10.1093/eurheartj/ehq271; 47. Yancy CW, Jessup M, Bozkurt B, et al. 2013 ACCF/AHA Guideline for the Management of Heart Failure. Circulation. 2013;128(16). doi:10.1161/CIR.0b013e31829e8776; 48. Herbert E, Trusz-Gluza M, Moric E, Śmiłowska-Dzielicka E, Mazurek U, Wilczok T. KCNQ1 gene mutations and the respective genotype-phenotype correlations in the long QT syndrome. Med Sci Monit. 2002;8(10):240-249.; 49. Albertella L, Crawford J, Skinner JR. Presentation and outcome of water-related events in children with long QT syndrome. Arch Dis Child. 2011;96(8):704-707. doi:10.1136/adc.2009.178152; 50. Zehelein J, Thomas D, Khalil M, et al. Identification and characterisation of a novel KCNQ1 mutation in a family with Romano–Ward syndrome. Biochim Biophys Acta - Mol Basis Dis. 2004;1690(3):185-192. doi:10.1016/J.BBADIS.2004.06.024; 51. Hobbs JB, Peterson DR, Moss AJ, et al. Risk of aborted cardiac arrest or sudden cardiac death during adolescence in the long-QT syndrome. J Am Med Assoc. 2006;296(10):1249-1254. doi:10.1001/jama.296.10.1249; 52. Ackerman MJ, Priori SG, Dubin AM, et al. Beta-blocker therapy for long QT syndrome and catecholaminergic polymorphic ventricular tachycardia: Are all beta-blockers equivalent? Hear Rhythm. 2017;14(1). doi:10.1016/j.hrthm.2016.09.012; 53. Ahn J, Kim HJ, Choi J Il, et al. Effectiveness of beta-blockers depending on the genotype of congenital long-QT syndrome: A meta-analysis. Aalto-Setala K, ed. PLoS One. 2017;12(10):e0185680. doi:10.1371/journal.pone.0185680; 54. Goldenberg I, Horr S, Moss AJ, et al. Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals. J Am Coll Cardiol. 2011;57(1):51-59. doi:10.1016/j.jacc.2010.07.038; 55. Dicker B, Garrett N, Wong S, et al. Relationship between socioeconomic factors, distribution of public access defibrillators and incidence of out-of-hospital cardiac arrest. Resuscitation. 2019;138(February):53-58. doi:10.1016/j.resuscitation.2019.02.022; 56. Earle N, Crawford J, Smith W, et al. Community detection of long QT syndrome with a clinical registry: An alternative to ECG screening programs? Hear Rhythm. 2013;10(2):233-238. doi:10.1016/j.hrthm.2012.10.043; 57. Winbo A, Earle N, Marcondes L, et al. Genetic testing in Polynesian long QT syndrome probands reveals a lower diagnostic yield and an increased prevalence of rare variants. Hear Rhythm. 2020;17(8):1304-1311. doi:10.1016/j.hrthm.2020.03.015; 58. den Haan AD, Tan BY, Zikusoka MN, et al. Comprehensive Desmosome Mutation Analysis in North Americans With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. Circ Cardiovasc Genet. 2009;2(5):428-435. doi:10.1161/CIRCGENETICS.109.858217; 59. Watanabe H, Minamino T. Genetics of Brugada syndrome. J Hum Genet. 2016;61(1):57-60. doi:10.1038/jhg.2015.97; 60. Bos JM, Will ML, Gersh BJ, Kruisselbrink TM, Ommen SR, Ackerman MJ. Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. Mayo Clin Proc. 2014;89(6):727-737. doi:10.1016/j.mayocp.2014.01.025; 61. Berge KE, Leren TP. Genetics of hypertrophic cardiomyopathy in Norway. Clin Genet. 2014;86(4):355-360. doi:10.1111/cge.12286; 62. Risgaard B. Sudden cardiac death: A nationwide cohort study among the young. Dan Med J. 2016;63(12):1-18.; 63. Rucinski C, Winbo A, Marcondes L, et al. A Population-Based Registry of Patients With Inherited Cardiac Conditions and Resuscitated Cardiac Arrest. J Am Coll Cardiol. 2020;75(21):2698-2707. doi:10.1016/j.jacc.2020.04.004; 64. Hershkovitz T, Kurolap A, Ruhrman-Shahar N, et al. Clinical diversity of MYH7-related cardiomyopathies: Insights into genotype–phenotype correlations. Am J Med Genet Part A. 2019;179(3):365-372. doi:10.1002/ajmg.a.61017; 65. L C, G M, K S, F C. Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology. Gene. 2015;573(2). doi:10.1016/J.GENE.2015.09.008; 66. Sedaghat-Hamedani F, Kayvanpour E, Tugrul OF, et al. Clinical outcomes associated with sarcomere mutations in hypertrophic cardiomyopathy: a meta-analysis on 7675 individuals. Clin Res Cardiol. 2018;107(1):30-41. doi:10.1007/s00392-017-1155-5; 67. Skinner JR, Winbo A, Abrams D, Vohra J, Wilde AA. Channelopathies That Lead to Sudden Cardiac Death: Clinical and Genetic Aspects. Hear Lung Circ. 2019;28(1):22-30. doi:10.1016/j.hlc.2018.09.007; 68. Ramdat Misier AR, Ghani A, Elvan A, Ottervanger JP, Maas AHEM, Delnoy PPHM. Sex-Based Differences in Cardiac Arrhythmias, ICD Utilisation and Cardiac Resynchronisation Therapy. Netherlands Hear J. 2010;19(1):35-40. doi:10.1007/s12471-010-0050-8; 69. Garg L, Garg J, Krishnamoorthy P, et al. Influence of Pregnancy in Patients with Congenital Long QT Syndrome. Cardiol Rev. 2017;25(4):197-201. doi:10.1097/CRD.0000000000000108; 70. Rodriguez I, Kilborn MJ, Liu XK, Pezzullo JC, Woosley RL. Drug-induced QT prolongation in women during the menstrual cycle. J Am Med Assoc. 2001;285(10):1322-1326. doi:10.1001/jama.285.10.1322; 71. Cheung CC, Laksman ZWM, Mellor G, Sanatani S, Krahn AD. Exercise and Inherited Arrhythmias. Can J Cardiol. 2016;32(4):452-458. doi:10.1016/j.cjca.2016.01.007; 72. Mascia G, Arbelo E, Solimene F, Giaccardi M, Brugada R, Brugada J. The long-QT syndrome and exercise practice: The never-ending debate. J Cardiovasc Electrophysiol. 2018;29(3):489-496. doi:10.1111/jce.13410; 73. Lombardi R, Chen SN, Ruggiero A, et al. Cardiac fibro-adipocyte progenitors express desmosome proteins and preferentially differentiate to adipocytes upon deletion of the desmoplakin gene. Circ Res. 2016;119(1):41-54. doi:10.1161/CIRCRESAHA.115.308136; 74. Saffitz JE, Asimaki A, Huang H. Arrhythmogenic right ventricular cardiomyopathy: new insights into mechanisms of disease. Cardiovasc Pathol. 2010;19(3):166-170. doi:10.1016/j.carpath.2009.10.006; 75. Zhang Q, Deng C, Rao F, et al. Silencing of desmoplakin decreases connexin43/Nav1.5 expression and sodium current in HL-1 cardiomyocytes. Mol Med Rep. 2013;8(3):780-786. doi:10.3892/mmr.2013.1594; 76. Garcia-Gras E, Lombardi R, Giocondo MJ, et al. Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy. J Clin Invest. 2006;116(7):2012-2021. doi:10.1172/JCI27751; 77. Giuliodori A, Beffagna G, Marchetto G, et al. Loss of cardiac Wnt/β-catenin signalling in desmoplakin-deficient AC8 zebrafish models is rescuable by genetic and pharmacological intervention. Cardiovasc Res. 2018;114(8):1082-1097. doi:10.1093/cvr/cvy057; 78. Castelletti S, Vischer AS, Syrris P, et al. Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation. Int J Cardiol. 2017;249:268-273. doi:10.1016/j.ijcard.2017.05.018; 79. Abbott GW, Goldstein SAN. Disease‐associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism. FASEB J. 2002;16(3):390-400. doi:10.1096/fj.01-0520hyp; 80. Faridi R, Tona R, Brofferio A, et al. Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome. Hum Mutat. 2019;40(2):162-176. doi:10.1002/humu.23689; 81. Adler A, Novelli V, Amin AS, et al. An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome. Circulation. 2020:418-428. doi:10.1161/CIRCULATIONAHA.119.043132; 82. Roberts JD, Asaki SY, Mazzanti A, et al. An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition. Circulation. 2020:429-439. doi:10.1161/CIRCULATIONAHA.119.043114; 83. Lane CM, Giudicessi JR, Ye D, et al. Long QT syndrome type 5-Lite: Defining the clinical phenotype associated with the potentially proarrhythmic p.Asp85Asn-KCNE1 common genetic variant. Hear Rhythm. 2018;15(8):1223-1230. doi:10.1016/j.hrthm.2018.03.038; 84. Kim M, Hunter RW, Garcia-Menendez L, et al. Mutation in the γ2-subunit of AMP-activated protein kinase stimulates cardiomyocyte proliferation and hypertrophy independent of glycogen storage. Circ Res. 2014;114(6):966-975. doi:10.1161/CIRCRESAHA.114.302364; 85. Zhan Y, Sun X, Li B, et al. Establishment of a PRKAG2 cardiac syndrome disease model and mechanism study using human induced pluripotent stem cells. J Mol Cell Cardiol. 2018;117(August 2017):49-61. doi:10.1016/j.yjmcc.2018.02.007; 86. Porto AG, Brun F, Severini GM, et al. Clinical Spectrum of PRKAG2 Syndrome. Circ Arrhythmia Electrophysiol. 2016;9(1):1-8. doi:10.1161/CIRCEP.115.003121; 87. Albernaz Siqueira MH, Honorato-Sampaio K, Dias GM, et al. Sudden death associated with a novel H401Q PRKAG2 mutation. Europace. 2020;22(8):1278. doi:10.1093/europace/euaa014; 88. Hu D, Hu D, Liu L, et al. Identification, clinical manifestation and structural mechanisms of mutations in AMPK associated cardiac glycogen storage disease. EBioMedicine. 2020;54:1-14. doi:10.1016/j.ebiom.2020.102723; 89. Chi C, Leonard A, Knight WE, et al. LAMP-2B regulates human cardiomyocyte function by mediating autophagosome–lysosome fusion. Proc Natl Acad Sci U S A. 2019;116(2):556-565. doi:10.1073/pnas.1808618116; 90. Cheng Z, Fang Q. Danon disease: Focusing on heart. J Hum Genet. 2012;57(7):407-410. doi:10.1038/jhg.2012.72; 91. Boucek D, Jirikowic J, Taylor M. Natural history of Danon disease. Genet Med. 2011;13(6):563-568. doi:10.1097/GIM.0b013e31820ad795; 92. Cheng Z, Cui Q, Tian Z, et al. Danon disease as a cause of concentric left ventricular hypertrophy in patients who underwent endomyocardial biopsy. Eur Heart J. 2012;33(5):649-656. doi:10.1093/eurheartj/ehr420; 93. Arad M, Seidman JG. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med. 2005;352:362-372. doi:10.1016/s0093-3619(08)70160-6; 94. Wei B, Jin J-P. TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and structure-function relationships. Gene. 2016;582(1):1-13. doi:10.1016/j.gene.2016.01.006; 95. Lv W, Qiao L, Petrenko N, et al. Functional Annotation of TNNT2 Variants of Uncertain Significance With Genome-Edited Cardiomyocytes. Circulation. 2018;138(24):2852-2854. doi:10.1161/CIRCULATIONAHA.118.035028; 96. Pedram A, Razandi M, Narayanan R, Dalton JT, McKinsey TA, Levin ER. Estrogen regulates histone deacetylases to prevent cardiac hypertrophy. Mol Biol Cell. 2013;24(24):3805-3818. doi:10.1091/mbc.E13-08-0444; 97. Verdonschot JAJ, Vanhoutte EK, Claes GRF, et al. A mutation update for the FLNC gene in myopathies and cardiomyopathies. Hum Mutat. 2020;41(6):1091-1111. doi:10.1002/humu.24004; 98. Valdés-Mas R, Gutiérrez-Fernández A, Gómez J, et al. Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy. Nat Commun. 2014;5(1):5326. doi:10.1038/ncomms6326; 99. Ader F, De Groote P, Réant P, et al. FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations. Clin Genet. 2019;96(4):317-329. doi:10.1111/cge.13594; 100. Cui H, Wang J, Zhang C, et al. Mutation profile of FLNC gene and its prognostic relevance in patients with hypertrophic cardiomyopathy. Mol Genet Genomic Med. 2018;6(6):1104-1113. doi:10.1002/mgg3.488; 101. Karbassi I, Maston GA, Love A, et al. A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders. Hum Mutat. 2016;37(1):127-134. doi:10.1002/humu.22918; 102. Kelly MA, Caleshu C, Morales A, et al. Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: Recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel. Genet Med. 2018;20(3):351-359. doi:10.1038/gim.2017.218; 103. Taha A, Ballou MM, Lama AE. Utilization of national patient registries by clinical nurse specialist: Opportunities and implications. Clin Nurse Spec. 2014;28(1):56-62. doi:10.1097/NUR.0000000000000018; 104. Fredman D, Ringh M, Svensson L, et al. Experiences and outcome from the implementation of a national Swedish automated external defibrillator registry. Resuscitation. 2018;130:73-80. doi:10.1016/j.resuscitation.2018.06.036; 105. Earle NJ, Crawford J, Hayes I, et al. Development of a cardiac inherited disease service and clinical registry: A 15-year perspective. Am Heart J. 2019;209:126-130. doi:10.1016/j.ahj.2018.11.013; 106. Martins AM, Cabrera G, Molt F, et al. The clinical profiles of female patients with Fabry disease in Latin America: A Fabry Registry analysis of natural history data from 169 patients based on enzyme replacement therapy status. JIMD Rep. 2019;49(1):107-117. doi:10.1002/jmd2.12071; 107. Drelichman G, Linares A, Villalobos J, et al. Enfermedad de Gaucher en LatinoAmérica: Un informe del registro internacional y del grupo LatinoAmericano para la enfermedad de Gaucher. Med. 2012;72(4):273-282. http://www.medicinabuenosaires.com/PMID/22892077.pdf. Accessed August 4, 2020.; 108. Eslava Otálora, Andrea Cecilia; Mateus Arbelaez HE. Registro de pacientes con distrofinopatías en Colombia. 2016.; 109. Krahn AD, Healey JS, Chauhan V, et al. Systematic assessment of patients with unexplained cardiac arrest: Cardiac arrest survivors with preserved ejection fraction registry (CASPER). Circulation. 2009;120(4):278-285. doi:10.1161/CIRCULATIONAHA.109.853143; 110. Wissenberg M, Hansen CM, Folke F, et al. Survival after out-of-hospital cardiac arrest in relation to sex: A nationwide registry-based study. Resuscitation. 2014;85(9):1212-1218. doi:10.1016/j.resuscitation.2014.06.008; https://repositorio.unal.edu.co/handle/unal/79466; Universidad Nacional de Colombia; Repositorio Institucional Universidad Nacional de Colombia; https://repositorio.unal.edu.co/

الاتاحة: https://repositorio.unal.edu.co/handle/unal/79466
https://repositorio.unal.edu.co/

المؤلفون: Sanz Sánchez, Jorge

المساهمون: Zorio Grima, Esther, Braza Boïls, Aitana, Departament de Patologia

المصدر: RODERIC. Repositorio Institucional de la Universitat de Valéncia
instname

مصطلحات موضوعية: miocardiopatía arritmogénica, cardiologia, UNESCO::CIENCIAS MÉDICAS, CIENCIAS MÉDICAS [UNESCO]

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::85087d0062329530c2bd301cf3884329
http://hdl.handle.net/10550/69146

المؤلفون: Fernández Cabalín, Carlos, Quezada Staub, Katty

المصدر: Revista Uruguaya de Cardiología, Volume: 33, Issue: 3, Pages: 280-313, Published: DEC 2018

مصطلحات موضوعية: Sudden death, Desmosomas, Muerte súbita, Desmosomes, Arrhythmogenic right ventricular cardiomyopathy, Miocardiopatía arritmogénica ventricular derecha

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______615::bdfecab1737b7244c95c83ba82bdd269
http://www.scielo.edu.uy/scielo.php?script=sci_arttext&pid=S1688-04202018000300280&lng=en&tlng=en