Autopsia molecular en muerte súbita cardiaca neonatal mediante secuenciación de siguiente generación (NGS): presentación de un caso

Autores:: Garzón Venegas, Eliana del Pliar
Rubio Gómez, Cladelis
Carpeta Sánchez, Suleima
Vélez Segura, Jennifer
Blanco Gómez, Jenny
Beltrán Moreno, Paola Andrea
Sánchez MD, Diana
Serrano MD, Claudia Juliana
Bonilla, Juan Carlos

Tipo de recurso:: Article of journal

Fecha de publicación:: 2018

Institución:: Fundación Universitaria de Ciencias de la Salud - FUCS

Repositorio:: Repositorio Digital Institucional ReDi

Idioma:: spa

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dc.title.spa.fl_str_mv	Autopsia molecular en muerte súbita cardiaca neonatal mediante secuenciación de siguiente generación (NGS): presentación de un caso
dc.title.translated.eng.fl_str_mv	Molecular autopsy in death sudden cardiac neonatal next generation sequencing (NGS): presentation of a case
title	Autopsia molecular en muerte súbita cardiaca neonatal mediante secuenciación de siguiente generación (NGS): presentación de un caso
spellingShingle	Autopsia molecular en muerte súbita cardiaca neonatal mediante secuenciación de siguiente generación (NGS): presentación de un caso autopsia molecular muerte súbita cardiaca miocardiopatía hipertrófica secuenciación de próxima generación (NGS) molecular autopsy sudden cardiac death hypertrophic cardiomyopathy next generation sequencing (NGS)
title_short	Autopsia molecular en muerte súbita cardiaca neonatal mediante secuenciación de siguiente generación (NGS): presentación de un caso
title_full	Autopsia molecular en muerte súbita cardiaca neonatal mediante secuenciación de siguiente generación (NGS): presentación de un caso
title_fullStr	Autopsia molecular en muerte súbita cardiaca neonatal mediante secuenciación de siguiente generación (NGS): presentación de un caso
title_full_unstemmed	Autopsia molecular en muerte súbita cardiaca neonatal mediante secuenciación de siguiente generación (NGS): presentación de un caso
title_sort	Autopsia molecular en muerte súbita cardiaca neonatal mediante secuenciación de siguiente generación (NGS): presentación de un caso
dc.creator.fl_str_mv	Garzón Venegas, Eliana del Pliar Rubio Gómez, Cladelis Carpeta Sánchez, Suleima Vélez Segura, Jennifer Blanco Gómez, Jenny Beltrán Moreno, Paola Andrea Sánchez MD, Diana Serrano MD, Claudia Juliana Bonilla, Juan Carlos
dc.contributor.author.spa.fl_str_mv	Garzón Venegas, Eliana del Pliar Rubio Gómez, Cladelis Carpeta Sánchez, Suleima Vélez Segura, Jennifer Blanco Gómez, Jenny Beltrán Moreno, Paola Andrea Sánchez MD, Diana Serrano MD, Claudia Juliana Bonilla, Juan Carlos
dc.subject.spa.fl_str_mv	autopsia molecular muerte súbita cardiaca miocardiopatía hipertrófica secuenciación de próxima generación (NGS)
topic	autopsia molecular muerte súbita cardiaca miocardiopatía hipertrófica secuenciación de próxima generación (NGS) molecular autopsy sudden cardiac death hypertrophic cardiomyopathy next generation sequencing (NGS)
dc.subject.eng.fl_str_mv	molecular autopsy sudden cardiac death hypertrophic cardiomyopathy next generation sequencing (NGS)
publishDate	2018
dc.date.accessioned.none.fl_str_mv	2018-04-26 00:00:00 2022-02-21T20:34:09Z
dc.date.issued.none.fl_str_mv	2018-04-26
dc.date.available.none.fl_str_mv	2018-04-26 00:00:00 2022-02-21T20:34:09Z
dc.type.spa.fl_str_mv	Artículo de revista
dc.type.eng.fl_str_mv	Journal article
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dc.identifier.doi.none.fl_str_mv	10.31260/RepertMedCir.v27.n1.2018.131
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dc.identifier.eissn.none.fl_str_mv	2462-991X
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dc.relation.references.spa.fl_str_mv	Torkamani A, Muse ED, Spencer EG, Rueda M, Wagner GN, Lucas JR, et al. Molecular Autopsy for Sudden Unexpected Death. Jama. 2016;316(14):1492-4. Epub 2016/10/12. 2. Eckart RE, Shry EA, Burke AP, McNear JA, Appel DA, Castillo-Rojas LM, et al. Sudden death in young adults: an autopsy-based series of a population undergoing active surveillance. J Am Coll Cardiol. 2011;58(12):1254-61. Epub 2011/09/10. 3. Semsarian C, Ingles J, Wilde AA. Sudden cardiac death in the young: the molecular autopsy and a practical approach to surviving relatives. Eur Heart J. 2015;36(21):1290-6. Epub 2015/03/15. 4. Wilde AA, Behr ER. Genetic testing for inherited cardiac disease. Nat Rev Cardiol. 2013;10(10):571-83. Epub 2013/08/01. 5. Behr ER, Dalageorgou C, Christiansen M, Syrris P, Hughes S, Tome Esteban MT, et al. Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. Eur Heart J. 2008;29(13):1670-80. Epub 2008/05/30. 6. Lahrouchi N, Behr ER, Bezzina CR. Next-Generation Sequencing in Post-mortem Genetic Testing of Young Sudden Cardiac Death Cases. Frontiers in Cardiovascular Medicine. 2016;3:13. Epub 2016/06/16. 7. Tester DJ, Ackerman MJ. The molecular autopsy: should the evaluation continue after the funeral? Pediatr Cardiol. 2012;33(3):461- 70. Epub 2012/02/07. 8. Behr E, Wood DA, Wright M, Syrris P, Sheppard MN, Casey A, et al. Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome. Lancet. 2003;362(9394):1457-9. Epub 2003/11/07. 9. Tan HL, Hofman N, van Langen IM, van der Wal AC, Wilde AA. Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. Circulation. 2005;112(2):207-13. Epub 2005/07/07. 10. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, 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. Genetics in medicine : official journal of the American College of Medical Genetics = Genet. Med.a 2015;17(5):405-24. Epub 2015/03/06. 11. Li Q, Wang K. InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines. American journal of human genetics. 2017;100(2):267-80. Epub 2017/01/31. 12. Bagnall RD, Semsarian C. Role of the molecular autopsy in the investigation of sudden cardiac death. Progress in Pediatric Cardiology. 2017;45:17-23. 13. Towbin JA, Lowe AM, Colan SD, Sleeper LA, Orav EJ, Clunie S, et al. Incidence, causes, and outcomes of dilated cardiomyopathy in children. Jama. 2006;296(15):1867-76. Epub 2006/10/19. 14. Colan SD, Lipshultz SE, Lowe AM, Sleeper LA, Messere J, Cox GF, et al. Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy Registry. Circulation. 2007;115(6):773-81. Epub 2007/01/31. 15. Rossmanith W. Localization of human RNase Z isoforms: dual nuclear/ mitochondrial targeting of the ELAC2 gene product by alternative translation initiation. PLoS One. 2011;6(4):e19152. Epub 2011/05/12. 16. Haack TB, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls TJ, et al. ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. Am J Hum Genet. 2013;93(2):211-23. Epub 2013/07/16. 17. Shinwari ZMA, Almesned A, Alakhfash A, Al-Rashdan AM, Faqeih E, Al-Humaidi Z, et al. The Phenotype and Outcome of Infantile Cardiomyopathy Caused by a Homozygous ELAC2 Mutation. Cardiology. 2017;137(3):188-92. Epub 2017/04/26. 18. Bang ML, Centner T, Fornoff F, Geach AJ, Gotthardt M, McNabb M, et al. The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system. Circ Res. 2001;89(11):1065-72. Epub 2001/11/22. 19. Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, et al. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet. 2002;71(3):492-500. Epub 2002/07/30. 20. Furst DO, Osborn M, Nave R, Weber K. The organization of titin filaments in the half-sarcomere revealed by monoclonal antibodies in immunoelectron microscopy: a map of ten nonrepetitive epitopes starting at the Z line extends close to the M line. J Cell Biol. 1988;106(5):1563-72. Epub 1988/05/01. 21. Vikhlyantsev IM, Podlubnaya ZA. New titin (connectin) isoforms and their functional role in striated muscles of mammals: facts and suppositions. Biochemistry Biochemistry (Mosc). 2012;77(13):1515- 35. Epub 2013/02/06. 22. Granzier HL, Labeit S. The giant protein titin: a major player in myocardial mechanics, signaling, and disease. Circ. Res. 2004;94(3):284-95. Epub 2004/02/21. 23. Chauveau C, Bonnemann CG, Julien C, Kho AL, Marks H, Talim B, et al. Recessive TTN truncating mutations define novel forms of core myopathy with heart disease. Hum Mol Genet. 2014;23(4):980-91. Epub 2013/10/10. 24. Herman DS, Lam L, Taylor MR, Wang L, Teekakirikul P, Christodoulou D, et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012;366(7):619-28. Epub 2012/02/18.
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dc.relation.citationedition.spa.fl_str_mv	Núm. 1 , Año 2018 : Enero – Abril
dc.relation.citationendpage.none.fl_str_mv	43
dc.relation.citationissue.spa.fl_str_mv	1
dc.relation.citationstartpage.none.fl_str_mv	39
dc.relation.citationvolume.spa.fl_str_mv	27
dc.relation.ispartofjournal.spa.fl_str_mv	Revista Repertorio de Medicina y Cirugía
dc.rights.spa.fl_str_mv	Fundación Universitaria de Ciencias de la Salud - FUCS - 2018
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dc.publisher.spa.fl_str_mv	Sociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la Salud
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spelling	Garzón Venegas, Eliana del Pliar34ea22fb159a3eb9c3400c1743d9c0e1300Rubio Gómez, Cladelis59d3daa2c12228b61c0ef8cddea9a586500Carpeta Sánchez, Suleima60b9ae6eb58438feed74ed0ba5e99e60300Vélez Segura, Jennifer68bff41ba4ef3ffb7b4c4ca8c33e86c8300Blanco Gómez, Jenny08bb094078abd9e6295157dad5ab2a11300Beltrán Moreno, Paola Andrea3af8c8a0fcb89234d070e6a2279c6896300Sánchez MD, Diana6f8fc59d264ff538a7aca389edb6f87e300Serrano MD, Claudia Juliana1a32a9d22d669e7095a5ec0e13a21957300Bonilla, Juan Carlos7d7ea458bc7829594b7791c7fd5e60a75002018-04-26 00:00:002022-02-21T20:34:09Z2018-04-262018-04-26 00:00:002022-02-21T20:34:09ZSociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la SaludFundación Universitaria de Ciencias de la Salud - FUCS - 2018info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/4.0/http://purl.org/coar/access_right/c_abf2https://revistas.fucsalud.edu.co/index.php/repertorio/article/view/131autopsia molecularmuerte súbita cardiacamiocardiopatía hipertróficasecuenciación de próxima generación (NGS)molecular autopsysudden cardiac deathhypertrophic cardiomyopathynext generation sequencing (NGS)Autopsia molecular en muerte súbita cardiaca neonatal mediante secuenciación de siguiente generación (NGS): presentación de un casoMolecular autopsy in death sudden cardiac neonatal next generation sequencing (NGS): presentation of a caseapplication/pdftext/htmlapplication/epub+zipapplication/xmlArtículo de revistaJournal articlehttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionTexthttp://purl.org/coar/version/c_970fb48d4fbd8a8510.31260/RepertMedCir.v27.n1.2018.1310121-7372https://repositorio.fucsalud.edu.co/handle/001/21002462-991Xhttps://doi.org/10.31260/RepertMedCir.v27.n1.2018.131spaTorkamani A, Muse ED, Spencer EG, Rueda M, Wagner GN, Lucas JR, et al. Molecular Autopsy for Sudden Unexpected Death. Jama. 2016;316(14):1492-4. Epub 2016/10/12. 2. Eckart RE, Shry EA, Burke AP, McNear JA, Appel DA, Castillo-Rojas LM, et al. Sudden death in young adults: an autopsy-based series of a population undergoing active surveillance. J Am Coll Cardiol. 2011;58(12):1254-61. Epub 2011/09/10. 3. Semsarian C, Ingles J, Wilde AA. Sudden cardiac death in the young: the molecular autopsy and a practical approach to surviving relatives. Eur Heart J. 2015;36(21):1290-6. Epub 2015/03/15. 4. Wilde AA, Behr ER. Genetic testing for inherited cardiac disease. Nat Rev Cardiol. 2013;10(10):571-83. Epub 2013/08/01. 5. Behr ER, Dalageorgou C, Christiansen M, Syrris P, Hughes S, Tome Esteban MT, et al. Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. Eur Heart J. 2008;29(13):1670-80. Epub 2008/05/30. 6. Lahrouchi N, Behr ER, Bezzina CR. Next-Generation Sequencing in Post-mortem Genetic Testing of Young Sudden Cardiac Death Cases. Frontiers in Cardiovascular Medicine. 2016;3:13. Epub 2016/06/16. 7. Tester DJ, Ackerman MJ. The molecular autopsy: should the evaluation continue after the funeral? Pediatr Cardiol. 2012;33(3):461- 70. Epub 2012/02/07. 8. Behr E, Wood DA, Wright M, Syrris P, Sheppard MN, Casey A, et al. Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome. Lancet. 2003;362(9394):1457-9. Epub 2003/11/07. 9. Tan HL, Hofman N, van Langen IM, van der Wal AC, Wilde AA. Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. Circulation. 2005;112(2):207-13. Epub 2005/07/07. 10. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, 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. Genetics in medicine : official journal of the American College of Medical Genetics = Genet. Med.a 2015;17(5):405-24. Epub 2015/03/06. 11. Li Q, Wang K. InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines. American journal of human genetics. 2017;100(2):267-80. Epub 2017/01/31. 12. Bagnall RD, Semsarian C. Role of the molecular autopsy in the investigation of sudden cardiac death. Progress in Pediatric Cardiology. 2017;45:17-23. 13. Towbin JA, Lowe AM, Colan SD, Sleeper LA, Orav EJ, Clunie S, et al. Incidence, causes, and outcomes of dilated cardiomyopathy in children. Jama. 2006;296(15):1867-76. Epub 2006/10/19. 14. Colan SD, Lipshultz SE, Lowe AM, Sleeper LA, Messere J, Cox GF, et al. Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy Registry. Circulation. 2007;115(6):773-81. Epub 2007/01/31. 15. Rossmanith W. Localization of human RNase Z isoforms: dual nuclear/ mitochondrial targeting of the ELAC2 gene product by alternative translation initiation. PLoS One. 2011;6(4):e19152. Epub 2011/05/12. 16. Haack TB, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls TJ, et al. ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. Am J Hum Genet. 2013;93(2):211-23. Epub 2013/07/16. 17. Shinwari ZMA, Almesned A, Alakhfash A, Al-Rashdan AM, Faqeih E, Al-Humaidi Z, et al. The Phenotype and Outcome of Infantile Cardiomyopathy Caused by a Homozygous ELAC2 Mutation. Cardiology. 2017;137(3):188-92. Epub 2017/04/26. 18. Bang ML, Centner T, Fornoff F, Geach AJ, Gotthardt M, McNabb M, et al. The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system. Circ Res. 2001;89(11):1065-72. Epub 2001/11/22. 19. Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, et al. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet. 2002;71(3):492-500. Epub 2002/07/30. 20. Furst DO, Osborn M, Nave R, Weber K. The organization of titin filaments in the half-sarcomere revealed by monoclonal antibodies in immunoelectron microscopy: a map of ten nonrepetitive epitopes starting at the Z line extends close to the M line. J Cell Biol. 1988;106(5):1563-72. Epub 1988/05/01. 21. Vikhlyantsev IM, Podlubnaya ZA. New titin (connectin) isoforms and their functional role in striated muscles of mammals: facts and suppositions. Biochemistry Biochemistry (Mosc). 2012;77(13):1515- 35. Epub 2013/02/06. 22. Granzier HL, Labeit S. The giant protein titin: a major player in myocardial mechanics, signaling, and disease. Circ. Res. 2004;94(3):284-95. Epub 2004/02/21. 23. Chauveau C, Bonnemann CG, Julien C, Kho AL, Marks H, Talim B, et al. Recessive TTN truncating mutations define novel forms of core myopathy with heart disease. Hum Mol Genet. 2014;23(4):980-91. Epub 2013/10/10. 24. Herman DS, Lam L, Taylor MR, Wang L, Teekakirikul P, Christodoulou D, et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012;366(7):619-28. 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Autopsia molecular en muerte súbita cardiaca neonatal mediante secuenciación de siguiente generación (NGS): presentación de un caso

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