Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy
Late gadolinium enhancement (LGE) is frequently found in patients with dilated cardiomyopathy (DCM); there is little information about its frequency and distribution pattern according to the underlying genetic substrate. We sought to describe LGE patterns according to genotypes and to analyse the ri...
| Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | artículo |
| Fecha de publicación: | 2023 |
| País: | España |
| Recursos: | Universitat Autònoma de Barcelona |
| Repositorio: | Dipòsit Digital de Documents de la UAB |
| Idioma: | inglés |
| OAI Identifier: | oai:ddd.uab.cat:292973 |
| Acesso em linha: | https://ddd.uab.cat/record/292973 https://dx.doi.org/urn:doi:10.1093/ehjci/jead184 |
| Access Level: | acceso abierto |
| Palavra-chave: | Dilated cardiomyopathy Late gadolinium enhancement Cardiac magnetic resonance Genetics Sudden cardiac death |
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Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathygenotype-phenotype correlationDe Frutos, Fernando|||0000-0003-4350-3217Ochoa, Juan Pablo|||0000-0002-7966-0313Fernández, Ana IsabelGallego-Delgado, María|||0000-0003-0726-9646Navarro-Peñalver, MarinaCasas, Guillem|||0000-0001-7122-320XBasurte-Elorz, María Teresa|||0000-0002-8689-0301Larrañaga-Moreira, José MaríaMogollón, María VictoriaRobles-Mezcua, AinhoaGarcía-Granja, Pablo Elpidio|||0000-0002-0750-1567Climent, Vicente|||0000-0001-7362-1922Palomino-Doza, JuliánGarcía-Álvarez, Ana|||0000-0002-1718-2424Brion, María|||0000-0001-7463-2148Brugada, Ramon|||0000-0001-6607-3032Jiménez-Jáimez, Juan|||0000-0001-5541-898XBayés-Genís, Antoni|||0000-0002-3044-197XRipoll-Vera, Tomás|||0000-0001-9222-325XPeña-Peña, María LuisaRodríguez Palomares, José F.|||0000-0002-7229-9780Gonzalez-Carrillo, JosefaVillacorta, Eduardo|||0000-0003-0486-1740Espinosa, Maria AngelesGarcía-Pavía, Pablo|||0000-0002-5470-2257Mirelis, Jesus G.Dilated cardiomyopathyLate gadolinium enhancementCardiac magnetic resonanceGeneticsSudden cardiac deathLate gadolinium enhancement (LGE) is frequently found in patients with dilated cardiomyopathy (DCM); there is little information about its frequency and distribution pattern according to the underlying genetic substrate. We sought to describe LGE patterns according to genotypes and to analyse the risk of major ventricular arrhythmias (MVA) according to patterns. Cardiac magnetic resonance findings and LGE distribution according to genetics were performed in a cohort of 600 DCM patients followed at 20 Spanish centres. After exclusion of individuals with multiple causative gene variants or with variants in infrequent DCM-causing genes, 577 patients (34% females, mean age 53.5 years, left ventricular ejection fraction 36.9 ± 13.9%) conformed to the final cohort. A causative genetic variant was identified in 219 (38%) patients, and 147 (25.5%) had LGE. Significant differences were found comparing LGE patterns between genes (P < 0.001). LGE was absent or rare in patients with variants in TNNT2, RBM20, and MYH7 (0, 5, and 20%, respectively). Patients with variants in DMD, DSP, and FLNC showed a predominance of LGE subepicardial patterns (50, 41, and 18%, respectively), whereas patients with variants in TTN, BAG3, LMNA, and MYBPC3 showed unspecific LGE patterns. The genetic yield differed according to LGE patterns. Patients with subepicardial, lineal midwall, transmural, and right ventricular insertion points or with combinations of LGE patterns showed an increased risk of MVA compared with patients without LGE. LGE patterns in DCM have a specific distribution according to the affected gene. Certain LGE patterns are associated with an increased risk of MVA and with an increased yield of genetic testing.Universitat Autònoma de Barcelona. Departament de Medicina 22023-01-0120232023-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/292973https://dx.doi.org/urn:doi:10.1093/ehjci/jead184reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengInstituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI18/0004Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI19/01283Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI20/0320Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 CM20/00101open accesshttp://purl.org/coar/access_right/c_abf2Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original.https://creativecommons.org/licenses/by-nc/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:2929732026-06-06T12:50:31Z |
| dc.title.none.fl_str_mv |
Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy genotype-phenotype correlation |
| title |
Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy |
| spellingShingle |
Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy De Frutos, Fernando|||0000-0003-4350-3217 Dilated cardiomyopathy Late gadolinium enhancement Cardiac magnetic resonance Genetics Sudden cardiac death |
| title_short |
Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy |
| title_full |
Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy |
| title_fullStr |
Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy |
| title_full_unstemmed |
Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy |
| title_sort |
Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy |
| dc.creator.none.fl_str_mv |
De Frutos, Fernando|||0000-0003-4350-3217 Ochoa, Juan Pablo|||0000-0002-7966-0313 Fernández, Ana Isabel Gallego-Delgado, María|||0000-0003-0726-9646 Navarro-Peñalver, Marina Casas, Guillem|||0000-0001-7122-320X Basurte-Elorz, María Teresa|||0000-0002-8689-0301 Larrañaga-Moreira, José María Mogollón, María Victoria Robles-Mezcua, Ainhoa García-Granja, Pablo Elpidio|||0000-0002-0750-1567 Climent, Vicente|||0000-0001-7362-1922 Palomino-Doza, Julián García-Álvarez, Ana|||0000-0002-1718-2424 Brion, María|||0000-0001-7463-2148 Brugada, Ramon|||0000-0001-6607-3032 Jiménez-Jáimez, Juan|||0000-0001-5541-898X Bayés-Genís, Antoni|||0000-0002-3044-197X Ripoll-Vera, Tomás|||0000-0001-9222-325X Peña-Peña, María Luisa Rodríguez Palomares, José F.|||0000-0002-7229-9780 Gonzalez-Carrillo, Josefa Villacorta, Eduardo|||0000-0003-0486-1740 Espinosa, Maria Angeles García-Pavía, Pablo|||0000-0002-5470-2257 Mirelis, Jesus G. |
| author |
De Frutos, Fernando|||0000-0003-4350-3217 |
| author_facet |
De Frutos, Fernando|||0000-0003-4350-3217 Ochoa, Juan Pablo|||0000-0002-7966-0313 Fernández, Ana Isabel Gallego-Delgado, María|||0000-0003-0726-9646 Navarro-Peñalver, Marina Casas, Guillem|||0000-0001-7122-320X Basurte-Elorz, María Teresa|||0000-0002-8689-0301 Larrañaga-Moreira, José María Mogollón, María Victoria Robles-Mezcua, Ainhoa García-Granja, Pablo Elpidio|||0000-0002-0750-1567 Climent, Vicente|||0000-0001-7362-1922 Palomino-Doza, Julián García-Álvarez, Ana|||0000-0002-1718-2424 Brion, María|||0000-0001-7463-2148 Brugada, Ramon|||0000-0001-6607-3032 Jiménez-Jáimez, Juan|||0000-0001-5541-898X Bayés-Genís, Antoni|||0000-0002-3044-197X Ripoll-Vera, Tomás|||0000-0001-9222-325X Peña-Peña, María Luisa Rodríguez Palomares, José F.|||0000-0002-7229-9780 Gonzalez-Carrillo, Josefa Villacorta, Eduardo|||0000-0003-0486-1740 Espinosa, Maria Angeles García-Pavía, Pablo|||0000-0002-5470-2257 Mirelis, Jesus G. |
| author_role |
author |
| author2 |
Ochoa, Juan Pablo|||0000-0002-7966-0313 Fernández, Ana Isabel Gallego-Delgado, María|||0000-0003-0726-9646 Navarro-Peñalver, Marina Casas, Guillem|||0000-0001-7122-320X Basurte-Elorz, María Teresa|||0000-0002-8689-0301 Larrañaga-Moreira, José María Mogollón, María Victoria Robles-Mezcua, Ainhoa García-Granja, Pablo Elpidio|||0000-0002-0750-1567 Climent, Vicente|||0000-0001-7362-1922 Palomino-Doza, Julián García-Álvarez, Ana|||0000-0002-1718-2424 Brion, María|||0000-0001-7463-2148 Brugada, Ramon|||0000-0001-6607-3032 Jiménez-Jáimez, Juan|||0000-0001-5541-898X Bayés-Genís, Antoni|||0000-0002-3044-197X Ripoll-Vera, Tomás|||0000-0001-9222-325X Peña-Peña, María Luisa Rodríguez Palomares, José F.|||0000-0002-7229-9780 Gonzalez-Carrillo, Josefa Villacorta, Eduardo|||0000-0003-0486-1740 Espinosa, Maria Angeles García-Pavía, Pablo|||0000-0002-5470-2257 Mirelis, Jesus G. |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
Universitat Autònoma de Barcelona. Departament de Medicina |
| dc.subject.none.fl_str_mv |
Dilated cardiomyopathy Late gadolinium enhancement Cardiac magnetic resonance Genetics Sudden cardiac death |
| topic |
Dilated cardiomyopathy Late gadolinium enhancement Cardiac magnetic resonance Genetics Sudden cardiac death |
| description |
Late gadolinium enhancement (LGE) is frequently found in patients with dilated cardiomyopathy (DCM); there is little information about its frequency and distribution pattern according to the underlying genetic substrate. We sought to describe LGE patterns according to genotypes and to analyse the risk of major ventricular arrhythmias (MVA) according to patterns. Cardiac magnetic resonance findings and LGE distribution according to genetics were performed in a cohort of 600 DCM patients followed at 20 Spanish centres. After exclusion of individuals with multiple causative gene variants or with variants in infrequent DCM-causing genes, 577 patients (34% females, mean age 53.5 years, left ventricular ejection fraction 36.9 ± 13.9%) conformed to the final cohort. A causative genetic variant was identified in 219 (38%) patients, and 147 (25.5%) had LGE. Significant differences were found comparing LGE patterns between genes (P < 0.001). LGE was absent or rare in patients with variants in TNNT2, RBM20, and MYH7 (0, 5, and 20%, respectively). Patients with variants in DMD, DSP, and FLNC showed a predominance of LGE subepicardial patterns (50, 41, and 18%, respectively), whereas patients with variants in TTN, BAG3, LMNA, and MYBPC3 showed unspecific LGE patterns. The genetic yield differed according to LGE patterns. Patients with subepicardial, lineal midwall, transmural, and right ventricular insertion points or with combinations of LGE patterns showed an increased risk of MVA compared with patients without LGE. LGE patterns in DCM have a specific distribution according to the affected gene. Certain LGE patterns are associated with an increased risk of MVA and with an increased yield of genetic testing. |
| publishDate |
2023 |
| dc.date.none.fl_str_mv |
2 2023-01-01 2023 2023-01-01 |
| dc.type.none.fl_str_mv |
Article http://purl.org/coar/resource_type/c_6501 VoR http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| dc.type.openaire.fl_str_mv |
info:eu-repo/semantics/article |
| format |
article |
| dc.identifier.none.fl_str_mv |
https://ddd.uab.cat/record/292973 https://dx.doi.org/urn:doi:10.1093/ehjci/jead184 |
| url |
https://ddd.uab.cat/record/292973 https://dx.doi.org/urn:doi:10.1093/ehjci/jead184 |
| dc.language.none.fl_str_mv |
Inglés eng |
| language_invalid_str_mv |
Inglés |
| language |
eng |
| dc.relation.none.fl_str_mv |
Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI18/0004 Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI19/01283 Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI20/0320 Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 CM20/00101 |
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open access http://purl.org/coar/access_right/c_abf2 https://creativecommons.org/licenses/by-nc/4.0/ |
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info:eu-repo/semantics/openAccess |
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open access http://purl.org/coar/access_right/c_abf2 https://creativecommons.org/licenses/by-nc/4.0/ |
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openAccess |
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application/pdf |
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reponame:Dipòsit Digital de Documents de la UAB instname:Universitat Autònoma de Barcelona |
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Universitat Autònoma de Barcelona |
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Dipòsit Digital de Documents de la UAB |
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Dipòsit Digital de Documents de la UAB |
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