Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives
BACKGROUND 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. OBJECTIVES This study sought to determine the penetrance of new DCM diagnosis in G+ relatives and to id...
| Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2024 |
| País: | España |
| Institución: | Universidad de Barcelona |
| Repositorio: | Dipòsit Digital de la UB |
| OAI Identifier: | oai:diposit.ub.edu:2445/214161 |
| Acceso en línea: | https://hdl.handle.net/2445/214161 |
| Access Level: | acceso abierto |
| Palabra clave: | Miocardiopaties Genètica humana Myocardiopathies Human genetics |
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Penetrance of Dilated Cardiomyopathy in Genotype-Positive RelativesCabrera Romero, EvaOchoa, Juan PabloBarriales Villa, RobertoBermúdez Jiménez, Francisco JoséCliment Payá, VicenteZorio, EstherEspinosa, María AngelesGallego Delgado, MaríaNavarro Peñalver, MarinaArana Achaga, XabierPiqueras Flores, JesúsEspejo Bares, VictoriaRodríguez Palomares, José F.Lacuey Lecumberri, GemmaLópez, JavierTiron, ColomaPeña Peña, María LuisaGarcía Pinilla, José ManuelLorca, RebecaRipoll Vera, TomásDíez López, CarlesMogollón Jiménez, María VictoriaGarcía Álvarez, AnaMartínez Dolz, LuisBrión, MaríaLarrañaga Moreira, Jose MaríaJiménez Jáimez, JuanGarcía Álvarez, María IsabelVilches Saez, SilviaVillacorta, EduardoSabater Molina, MaríaSolla Ruiz, ItziarRoyuela, AnaDomínguez, FernandoMirelis, Jesús G.García Pavía, PabloMiocardiopatiesGenètica humanaMyocardiopathiesHuman geneticsBACKGROUND 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. OBJECTIVES This study sought to determine the penetrance of new DCM diagnosis in G+ relatives and to identify factors associated with DCM development. METHODS 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. RESULTS 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%) identi fied late gadolinium enhancement as an additional independent predictor of DCM development (HR: 2.52; 95% CI: 1.43-4.45). CONCLUSIONS 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. (J Am Coll Cardiol 2024;83:1640 -1651) (c) 2024 The Authors. Published by Elsevier on behalf of the American College of Cardiology Foundation. This is an open access article under the CC BY -NC -ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).Elsevier BV2024info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/2445/214161Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésReproducció del document publicat a: https://doi.org/10.1016/j.jacc.2024.02.036Journal of the American College of Cardiology, 2024, vol. 83, num. 17, p. 1640-1651https://doi.org/10.1016/j.jacc.2024.02.036cc by-nc-nd (c) Cabrera Romero, Eva et al, 2024http://creativecommons.org/licenses/by-nc-nd/3.0/es/info:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/2141612026-05-27T06:46:51Z |
| 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 Miocardiopaties Genètica humana Myocardiopathies Human genetics |
| 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, María 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, José Manuel Lorca, Rebeca Ripoll Vera, Tomás Díez López, Carles Mogollón Jiménez, María Victoria García Álvarez, Ana Martínez Dolz, Luis Brión, María Larrañaga Moreira, Jose María Jiménez Jáimez, Juan García Álvarez, María Isabel Vilches Saez, Silvia Villacorta, Eduardo Sabater Molina, María Solla Ruiz, Itziar Royuela, Ana Domínguez, Fernando Mirelis, Jesús G. García Pavía, 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, María 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, José Manuel Lorca, Rebeca Ripoll Vera, Tomás Díez López, Carles Mogollón Jiménez, María Victoria García Álvarez, Ana Martínez Dolz, Luis Brión, María Larrañaga Moreira, Jose María Jiménez Jáimez, Juan García Álvarez, María Isabel Vilches Saez, Silvia Villacorta, Eduardo Sabater Molina, María Solla Ruiz, Itziar Royuela, Ana Domínguez, Fernando Mirelis, Jesús G. García Pavía, Pablo |
| author_role |
author |
| author2 |
Ochoa, Juan Pablo Barriales Villa, Roberto Bermúdez Jiménez, Francisco José Climent Payá, Vicente Zorio, Esther Espinosa, María 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, José Manuel Lorca, Rebeca Ripoll Vera, Tomás Díez López, Carles Mogollón Jiménez, María Victoria García Álvarez, Ana Martínez Dolz, Luis Brión, María Larrañaga Moreira, Jose María Jiménez Jáimez, Juan García Álvarez, María Isabel Vilches Saez, Silvia Villacorta, Eduardo Sabater Molina, María Solla Ruiz, Itziar Royuela, Ana Domínguez, Fernando Mirelis, Jesús G. García Pavía, 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.subject.none.fl_str_mv |
Miocardiopaties Genètica humana Myocardiopathies Human genetics |
| topic |
Miocardiopaties Genètica humana Myocardiopathies Human genetics |
| description |
BACKGROUND 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. OBJECTIVES This study sought to determine the penetrance of new DCM diagnosis in G+ relatives and to identify factors associated with DCM development. METHODS 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. RESULTS 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%) identi fied late gadolinium enhancement as an additional independent predictor of DCM development (HR: 2.52; 95% CI: 1.43-4.45). CONCLUSIONS 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. (J Am Coll Cardiol 2024;83:1640 -1651) (c) 2024 The Authors. Published by Elsevier on behalf of the American College of Cardiology Foundation. This is an open access article under the CC BY -NC -ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
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2024 |
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2024 |
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info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
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article |
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publishedVersion |
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https://hdl.handle.net/2445/214161 |
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https://hdl.handle.net/2445/214161 |
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Inglés |
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Inglés |
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Reproducció del document publicat a: https://doi.org/10.1016/j.jacc.2024.02.036 Journal of the American College of Cardiology, 2024, vol. 83, num. 17, p. 1640-1651 https://doi.org/10.1016/j.jacc.2024.02.036 |
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cc by-nc-nd (c) Cabrera Romero, Eva et al, 2024 http://creativecommons.org/licenses/by-nc-nd/3.0/es/ info:eu-repo/semantics/openAccess |
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cc by-nc-nd (c) Cabrera Romero, Eva et al, 2024 http://creativecommons.org/licenses/by-nc-nd/3.0/es/ |
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openAccess |
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application/pdf |
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Elsevier BV |
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Elsevier BV |
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Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) reponame:Dipòsit Digital de la UB instname:Universidad de Barcelona |
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Universidad de Barcelona |
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Dipòsit Digital de la UB |
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