Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives.

Cabrera-Romero E; Ochoa JP; Barriales-Villa R; Bermúdez-Jiménez FJ; Climent-Payá V; Zorio E; Espinosa MA; Gallego-Delgado M; Navarro-Peñalver M; Arana-Achaga X; Piqueras-Flores J; Espejo-Bares V; Rodríguez-Palomares JF; Lacuey-Lecumberri G; López J; Tiron C; Peña-Peña ML; García-Pinilla JM; Lorca R; Ripoll-Vera T; Díez-López C; Mogollon MV; García-Álvarez A; Martínez-Dolz L; Brion M; Larrañaga-Moreira JM; Jiménez-Jáimez J; García-Álvarez MI; Vilches S; Villacorta E; Sabater-Molina M; Solla-Ruiz I; Royuela A; Domínguez F; Mirelis JG; Garcia-Pavia P

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 i...

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Autores:	Cabrera-Romero E, Ochoa JP, Barriales-Villa R, Bermúdez-Jiménez FJ, Climent-Payá V, Zorio E, Espinosa MA, Gallego-Delgado M, Navarro-Peñalver M, Arana-Achaga X, Piqueras-Flores J, Espejo-Bares V, Rodríguez-Palomares JF, Lacuey-Lecumberri G, López J, Tiron C, Peña-Peña ML, García-Pinilla JM, Lorca R, Ripoll-Vera T, Díez-López C, Mogollon MV, García-Álvarez A, Martínez-Dolz L, Brion M, Larrañaga-Moreira JM, Jiménez-Jáimez J, García-Álvarez MI, Vilches S, Villacorta E, Sabater-Molina M, Solla-Ruiz I, Royuela A, Domínguez F, Mirelis JG, Garcia-Pavia P
Tipo de recurso:	artículo
Estado:	Versión publicada
Fecha de publicación:	2024
País:	España
Institución:	Instituto de Investigación Biomédica y Sanitaria de Alicante (ISABIAL)
Repositorio:	r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
OAI Identifier:	oai:isabial.fundanetsuite.com:p10409
Acceso en línea:	https://isabial.portalinvestigacion.com/publicaciones10409 https://www.sciencedirect.com/science/article/pii/S0735109724004807?via%3Dihub
Access Level:	acceso abierto
Palabra clave:	dilated cardiomyopathy genetics late gadolinium enhancement penetrance

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spelling	Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives.Cabrera-Romero EOchoa JPBarriales-Villa RBermúdez-Jiménez FJCliment-Payá VZorio EEspinosa MAGallego-Delgado MNavarro-Peñalver MArana-Achaga XPiqueras-Flores JEspejo-Bares VRodríguez-Palomares JFLacuey-Lecumberri GLópez JTiron CPeña-Peña MLGarcía-Pinilla JMLorca RRipoll-Vera TDíez-López CMogollon MVGarcía-Álvarez AMartínez-Dolz LBrion MLarrañaga-Moreira JMJiménez-Jáimez JGarcía-Álvarez MIVilches SVillacorta ESabater-Molina MSolla-Ruiz IRoyuela ADomínguez FMirelis JGGarcia-Pavia Pdilated cardiomyopathygeneticslate gadolinium enhancementpenetranceBACKGROUND: 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%) identified 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.ELSEVIER SCIENCE INC2024info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://isabial.portalinvestigacion.com/publicaciones10409https://www.sciencedirect.com/science/article/pii/S0735109724004807?via%3DihubJACC-JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGYISSN: 07351097ISSNe: 15583597reponame:r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicanteinstname:Instituto de Investigación Biomédica y Sanitaria de Alicante (ISABIAL)Inglésinfo:eu-repo/semantics/openAccessoai:isabial.fundanetsuite.com:p104092026-06-12T10:20:37Z
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 E dilated cardiomyopathy genetics late gadolinium enhancement penetrance
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 E Ochoa JP Barriales-Villa R Bermúdez-Jiménez FJ Climent-Payá V Zorio E Espinosa MA Gallego-Delgado M Navarro-Peñalver M Arana-Achaga X Piqueras-Flores J Espejo-Bares V Rodríguez-Palomares JF Lacuey-Lecumberri G López J Tiron C Peña-Peña ML García-Pinilla JM Lorca R Ripoll-Vera T Díez-López C Mogollon MV García-Álvarez A Martínez-Dolz L Brion M Larrañaga-Moreira JM Jiménez-Jáimez J García-Álvarez MI Vilches S Villacorta E Sabater-Molina M Solla-Ruiz I Royuela A Domínguez F Mirelis JG Garcia-Pavia P
author	Cabrera-Romero E
author_facet	Cabrera-Romero E Ochoa JP Barriales-Villa R Bermúdez-Jiménez FJ Climent-Payá V Zorio E Espinosa MA Gallego-Delgado M Navarro-Peñalver M Arana-Achaga X Piqueras-Flores J Espejo-Bares V Rodríguez-Palomares JF Lacuey-Lecumberri G López J Tiron C Peña-Peña ML García-Pinilla JM Lorca R Ripoll-Vera T Díez-López C Mogollon MV García-Álvarez A Martínez-Dolz L Brion M Larrañaga-Moreira JM Jiménez-Jáimez J García-Álvarez MI Vilches S Villacorta E Sabater-Molina M Solla-Ruiz I Royuela A Domínguez F Mirelis JG Garcia-Pavia P
author_role	author
author2	Ochoa JP Barriales-Villa R Bermúdez-Jiménez FJ Climent-Payá V Zorio E Espinosa MA Gallego-Delgado M Navarro-Peñalver M Arana-Achaga X Piqueras-Flores J Espejo-Bares V Rodríguez-Palomares JF Lacuey-Lecumberri G López J Tiron C Peña-Peña ML García-Pinilla JM Lorca R Ripoll-Vera T Díez-López C Mogollon MV García-Álvarez A Martínez-Dolz L Brion M Larrañaga-Moreira JM Jiménez-Jáimez J García-Álvarez MI Vilches S Villacorta E Sabater-Molina M Solla-Ruiz I Royuela A Domínguez F Mirelis JG Garcia-Pavia P
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	dilated cardiomyopathy genetics late gadolinium enhancement penetrance
topic	dilated cardiomyopathy genetics late gadolinium enhancement penetrance
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%) identified 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.
publishDate	2024
dc.date.none.fl_str_mv	2024
dc.type.none.fl_str_mv	info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion
format	article
status_str	publishedVersion
dc.identifier.none.fl_str_mv	https://isabial.portalinvestigacion.com/publicaciones10409 https://www.sciencedirect.com/science/article/pii/S0735109724004807?via%3Dihub
url	https://isabial.portalinvestigacion.com/publicaciones10409 https://www.sciencedirect.com/science/article/pii/S0735109724004807?via%3Dihub
dc.language.none.fl_str_mv	Inglés
language_invalid_str_mv	Inglés
dc.rights.none.fl_str_mv	info:eu-repo/semantics/openAccess
eu_rights_str_mv	openAccess
dc.publisher.none.fl_str_mv	ELSEVIER SCIENCE INC
publisher.none.fl_str_mv	ELSEVIER SCIENCE INC
dc.source.none.fl_str_mv	JACC-JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY ISSN: 07351097 ISSNe: 15583597 reponame:r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante instname:Instituto de Investigación Biomédica y Sanitaria de Alicante (ISABIAL)
instname_str	Instituto de Investigación Biomédica y Sanitaria de Alicante (ISABIAL)
reponame_str	r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
collection	r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
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repository.mail.fl_str_mv
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Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives.

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