Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives
Disease penetrance in genotype-positive (G+) relatives of families with dilated cardiomyopathy (DCM) and the characteristics associated with DCM onset in these individuals are unknown. This study sought to determine the penetrance of new DCM diagnosis in G+ relatives and to identify factors associat...
| Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Tipo de recurso: | artículo |
| Fecha de publicación: | 2024 |
| País: | España |
| Institución: | Conselleria de Salut i Consum del Govern de les Illes Balears |
| Repositorio: | Docusalut |
| Idioma: | inglés |
| OAI Identifier: | oai:docusalut.com:20.500.13003/20335 |
| Acceso en línea: | https://hdl.handle.net/20.500.13003/20335 |
| Access Level: | acceso abierto |
| Palabra clave: | Penetrance Genotype Young Adult Spain Adult Cardiomyopathy, Dilated Humans Connectin Follow-Up Studies Electrocardiography Middle Aged Male Female Retrospective Studies Conectina Femenino Masculino Estudios de Seguimiento Electrocardiografía Cardiomiopatía Dilatada Humanos Persona de Mediana Edad Adulto Joven Genotipo Estudios Retrospectivos Adulto España Penetrancia |
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Penetrance of Dilated Cardiomyopathy in Genotype-Positive RelativesCabrera-Romero, EvaOchoa, Juan PabloBarriales-Villa, RobertoBermúdez-Jiménez, Francisco JoséCliment-Payá, VicenteZorio, EstherEspinosa, Maria AngelesGallego-Delgado, MaríaNavarro-Peñalver, MarinaArana-Achaga, XabierPiqueras-Flores, JesúsEspejo-Bares, VictoriaRodríguez-Palomares, José FLacuey-Lecumberri, GemmaLópez, JavierTiron, ColomaPeña-Peña, María LuisaGarcía-Pinilla, Jose MLorca, RebecaRipoll, TomásDíez-López, CarlesMogollón-Jiménez, María VictoriaGarcía-Álvarez, AnaMartínez-Dolz, LuisBrion, MaríaLarrañaga-Moreira, Jose MaríaJiménez-Jáimez, JuanGarcía-Álvarez, María IsabelVilches, SilviaVillacorta, EduardoSabater-Molina, MariaSolla-Ruiz, ItziarRoyuela, AnaDominguez, FernandoMirelis, Jesús GGarcia-Pavia, PabloPenetranceGenotypeYoung AdultSpainAdultCardiomyopathy, DilatedHumansConnectinFollow-Up StudiesElectrocardiographyMiddle AgedMaleFemaleRetrospective StudiesConectinaFemeninoMasculinoEstudios de SeguimientoElectrocardiografíaCardiomiopatía DilatadaHumanosPersona de Mediana EdadAdulto JovenGenotipoEstudios RetrospectivosAdultoEspañaPenetranciaDisease penetrance in genotype-positive (G+) relatives of families with dilated cardiomyopathy (DCM) and the characteristics associated with DCM onset in these individuals are unknown. This study sought to determine the penetrance of new DCM diagnosis in G+ relatives and to identify factors associated with DCM development. The authors evaluated 779 G+ patients (age 35.8 ± 17.3 years; 459 [59%] females; 367 [47%] with variants in TTN) without DCM followed at 25 Spanish centers. After a median follow-up of 37.1 months (Q1-Q3: 16.3-63.8 months), 85 individuals (10.9%) developed DCM (incidence rate of 2.9 per 100 person-years; 95% CI: 2.3-3.5 per 100 person-years). DCM penetrance and age at DCM onset was different according to underlying gene group (log-rank P = 0.015 and P <0.01, respectively). In a multivariable model excluding CMR parameters, independent predictors of DCM development were: older age (HR per 1-year increase: 1.02; 95% CI: 1.0-1.04), an abnormal electrocardiogram (HR: 2.13; 95% CI: 1.38-3.29); presence of variants in motor sarcomeric genes (HR: 1.92; 95% CI: 1.05-3.50); lower left ventricular ejection fraction (HR per 1% increase: 0.86; 95% CI: 0.82-0.90) and larger left ventricular end-diastolic diameter (HR per 1-mm increase: 1.10; 95% CI: 1.06-1.13). Multivariable analysis in individuals with cardiac magnetic resonance and late gadolinium enhancement assessment (n = 360, 45%) identified late gadolinium enhancement as an additional independent predictor of DCM development (HR: 2.52; 95% CI: 1.43-4.45). Following a first negative screening, approximately 11% of G+ relatives developed DCM during a median follow-up of 3 years. Older age, an abnormal electrocardiogram, lower left ventricular ejection fraction, increased left ventricular end-diastolic diameter, motor sarcomeric genetic variants, and late gadolinium enhancement are associated with a higher risk of developing DCM.Elsevier20242024-04-3020242024-04-30research articlehttp://purl.org/coar/resource_type/c_2df8fbb1info:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/20.500.13003/20335reponame:Docusalutinstname:Conselleria de Salut i Consum del Govern de les Illes BalearsInglésengopen accesshttp://purl.org/coar/access_right/c_abf2Attribution-NonCommercial-NoDerivatives 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessoai:docusalut.com:20.500.13003/203352026-06-22T12:44:07Z |
| dc.title.none.fl_str_mv |
Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives |
| title |
Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives |
| spellingShingle |
Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives Cabrera-Romero, Eva Penetrance Genotype Young Adult Spain Adult Cardiomyopathy, Dilated Humans Connectin Follow-Up Studies Electrocardiography Middle Aged Male Female Retrospective Studies Conectina Femenino Masculino Estudios de Seguimiento Electrocardiografía Cardiomiopatía Dilatada Humanos Persona de Mediana Edad Adulto Joven Genotipo Estudios Retrospectivos Adulto España Penetrancia |
| title_short |
Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives |
| title_full |
Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives |
| title_fullStr |
Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives |
| title_full_unstemmed |
Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives |
| title_sort |
Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives |
| dc.creator.none.fl_str_mv |
Cabrera-Romero, Eva Ochoa, Juan Pablo Barriales-Villa, Roberto Bermúdez-Jiménez, Francisco José Climent-Payá, Vicente Zorio, Esther Espinosa, Maria Angeles Gallego-Delgado, María Navarro-Peñalver, Marina Arana-Achaga, Xabier Piqueras-Flores, Jesús Espejo-Bares, Victoria Rodríguez-Palomares, José F Lacuey-Lecumberri, Gemma López, Javier Tiron, Coloma Peña-Peña, María Luisa García-Pinilla, Jose M Lorca, Rebeca Ripoll, Tomás Díez-López, Carles Mogollón-Jiménez, María Victoria García-Álvarez, Ana Martínez-Dolz, Luis Brion, María Larrañaga-Moreira, Jose María Jiménez-Jáimez, Juan García-Álvarez, María Isabel Vilches, Silvia Villacorta, Eduardo Sabater-Molina, Maria Solla-Ruiz, Itziar Royuela, Ana Dominguez, Fernando Mirelis, Jesús G Garcia-Pavia, Pablo |
| author |
Cabrera-Romero, Eva |
| author_facet |
Cabrera-Romero, Eva Ochoa, Juan Pablo Barriales-Villa, Roberto Bermúdez-Jiménez, Francisco José Climent-Payá, Vicente Zorio, Esther Espinosa, Maria Angeles Gallego-Delgado, María Navarro-Peñalver, Marina Arana-Achaga, Xabier Piqueras-Flores, Jesús Espejo-Bares, Victoria Rodríguez-Palomares, José F Lacuey-Lecumberri, Gemma López, Javier Tiron, Coloma Peña-Peña, María Luisa García-Pinilla, Jose M Lorca, Rebeca Ripoll, Tomás Díez-López, Carles Mogollón-Jiménez, María Victoria García-Álvarez, Ana Martínez-Dolz, Luis Brion, María Larrañaga-Moreira, Jose María Jiménez-Jáimez, Juan García-Álvarez, María Isabel Vilches, Silvia Villacorta, Eduardo Sabater-Molina, Maria Solla-Ruiz, Itziar Royuela, Ana Dominguez, Fernando Mirelis, Jesús G Garcia-Pavia, Pablo |
| author_role |
author |
| author2 |
Ochoa, Juan Pablo Barriales-Villa, Roberto Bermúdez-Jiménez, Francisco José Climent-Payá, Vicente Zorio, Esther Espinosa, Maria Angeles Gallego-Delgado, María Navarro-Peñalver, Marina Arana-Achaga, Xabier Piqueras-Flores, Jesús Espejo-Bares, Victoria Rodríguez-Palomares, José F Lacuey-Lecumberri, Gemma López, Javier Tiron, Coloma Peña-Peña, María Luisa García-Pinilla, Jose M Lorca, Rebeca Ripoll, Tomás Díez-López, Carles Mogollón-Jiménez, María Victoria García-Álvarez, Ana Martínez-Dolz, Luis Brion, María Larrañaga-Moreira, Jose María Jiménez-Jáimez, Juan García-Álvarez, María Isabel Vilches, Silvia Villacorta, Eduardo Sabater-Molina, Maria Solla-Ruiz, Itziar Royuela, Ana Dominguez, Fernando Mirelis, Jesús G Garcia-Pavia, Pablo |
| 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 author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
|
| dc.subject.none.fl_str_mv |
Penetrance Genotype Young Adult Spain Adult Cardiomyopathy, Dilated Humans Connectin Follow-Up Studies Electrocardiography Middle Aged Male Female Retrospective Studies Conectina Femenino Masculino Estudios de Seguimiento Electrocardiografía Cardiomiopatía Dilatada Humanos Persona de Mediana Edad Adulto Joven Genotipo Estudios Retrospectivos Adulto España Penetrancia |
| topic |
Penetrance Genotype Young Adult Spain Adult Cardiomyopathy, Dilated Humans Connectin Follow-Up Studies Electrocardiography Middle Aged Male Female Retrospective Studies Conectina Femenino Masculino Estudios de Seguimiento Electrocardiografía Cardiomiopatía Dilatada Humanos Persona de Mediana Edad Adulto Joven Genotipo Estudios Retrospectivos Adulto España Penetrancia |
| description |
Disease penetrance in genotype-positive (G+) relatives of families with dilated cardiomyopathy (DCM) and the characteristics associated with DCM onset in these individuals are unknown. This study sought to determine the penetrance of new DCM diagnosis in G+ relatives and to identify factors associated with DCM development. The authors evaluated 779 G+ patients (age 35.8 ± 17.3 years; 459 [59%] females; 367 [47%] with variants in TTN) without DCM followed at 25 Spanish centers. After a median follow-up of 37.1 months (Q1-Q3: 16.3-63.8 months), 85 individuals (10.9%) developed DCM (incidence rate of 2.9 per 100 person-years; 95% CI: 2.3-3.5 per 100 person-years). DCM penetrance and age at DCM onset was different according to underlying gene group (log-rank P = 0.015 and P <0.01, respectively). In a multivariable model excluding CMR parameters, independent predictors of DCM development were: older age (HR per 1-year increase: 1.02; 95% CI: 1.0-1.04), an abnormal electrocardiogram (HR: 2.13; 95% CI: 1.38-3.29); presence of variants in motor sarcomeric genes (HR: 1.92; 95% CI: 1.05-3.50); lower left ventricular ejection fraction (HR per 1% increase: 0.86; 95% CI: 0.82-0.90) and larger left ventricular end-diastolic diameter (HR per 1-mm increase: 1.10; 95% CI: 1.06-1.13). Multivariable analysis in individuals with cardiac magnetic resonance and late gadolinium enhancement assessment (n = 360, 45%) identified late gadolinium enhancement as an additional independent predictor of DCM development (HR: 2.52; 95% CI: 1.43-4.45). Following a first negative screening, approximately 11% of G+ relatives developed DCM during a median follow-up of 3 years. Older age, an abnormal electrocardiogram, lower left ventricular ejection fraction, increased left ventricular end-diastolic diameter, motor sarcomeric genetic variants, and late gadolinium enhancement are associated with a higher risk of developing DCM. |
| publishDate |
2024 |
| dc.date.none.fl_str_mv |
2024 2024-04-30 2024 2024-04-30 |
| dc.type.none.fl_str_mv |
research article http://purl.org/coar/resource_type/c_2df8fbb1 |
| dc.type.openaire.fl_str_mv |
info:eu-repo/semantics/article |
| format |
article |
| dc.identifier.none.fl_str_mv |
https://hdl.handle.net/20.500.13003/20335 |
| url |
https://hdl.handle.net/20.500.13003/20335 |
| dc.language.none.fl_str_mv |
Inglés eng |
| language_invalid_str_mv |
Inglés |
| language |
eng |
| dc.rights.none.fl_str_mv |
open access http://purl.org/coar/access_right/c_abf2 Attribution-NonCommercial-NoDerivatives 4.0 Internacional http://creativecommons.org/licenses/by-nc-nd/4.0/ |
| dc.rights.openaire.fl_str_mv |
info:eu-repo/semantics/openAccess |
| rights_invalid_str_mv |
open access http://purl.org/coar/access_right/c_abf2 Attribution-NonCommercial-NoDerivatives 4.0 Internacional http://creativecommons.org/licenses/by-nc-nd/4.0/ |
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openAccess |
| dc.format.none.fl_str_mv |
application/pdf |
| dc.publisher.none.fl_str_mv |
Elsevier |
| publisher.none.fl_str_mv |
Elsevier |
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reponame:Docusalut instname:Conselleria de Salut i Consum del Govern de les Illes Balears |
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Conselleria de Salut i Consum del Govern de les Illes Balears |
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Docusalut |
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Docusalut |
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1869421440606928896 |
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15,812429 |