Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathy

Background: Although genetic variants in MYH7 are the most frequent cause of pediatric genetic dilated cardiomyopathy (DCM), there are no studies available describing this entity. We sought to describe clinical features, analyze variant location, and explore predictors of bad prognosis in pediatric...

Descripción completa

Detalles Bibliográficos
Autores: de Frutos F, Ochoa JP, Webster G, Jansen M, Remior P, Rasmussen TB, Sabater-Molina M, Barriales-Villa R, Girolami F, Cesar S, Fuentes-Cañamero ME, Alvarez García-Rovés R, Wahbi K, Limeres J, Kubanek M, Slieker MG, Sarquella-Brugada G, Abrams DJ, Dooijes D, Domínguez F, Garcia-Pavia P
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2024
País:España
Institución:Fundació Sant Joan de Déu
Repositorio:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
OAI Identifier:oai:fsjd.fundanetsuite.com:p27024
Acceso en línea:https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=27024
Access Level:acceso abierto
Palabra clave:dilated cardiomyopathy
genetics
MYH7
pediatric
id ES_ad2ff16885b3e37e497ba7e40d5e14fc
oai_identifier_str oai:fsjd.fundanetsuite.com:p27024
network_acronym_str ES
network_name_str España
repository_id_str
spelling Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathyde Frutos FOchoa JPWebster GJansen MRemior PRasmussen TBSabater-Molina MBarriales-Villa RGirolami FCesar SFuentes-Cañamero MEAlvarez García-Rovés RWahbi KLimeres JKubanek MSlieker MGSarquella-Brugada GAbrams DJDooijes DDomínguez FGarcia-Pavia Pdilated cardiomyopathygeneticsMYH7pediatricBackground: Although genetic variants in MYH7 are the most frequent cause of pediatric genetic dilated cardiomyopathy (DCM), there are no studies available describing this entity. We sought to describe clinical features, analyze variant location, and explore predictors of bad prognosis in pediatric MYH7-related DCM. Methods and Results: We evaluated clinical records from 44 patients (24 men; median age at diagnosis, 0.54 [interquartile range, 0.01-10.8] years) with pathogenic/likely pathogenic variants in MYH7 diagnosed with DCM at pediatric age (<18 years) followed at 13 international centers. We also explored risk factors associated with a composite end point of end-stage heart failure defined as heart transplantation or heart failure-related death. Twenty-two patients (50%) were diagnosed at age <6 months, including 7 (16%) at birth. Left ventricular (LV) hypertrabeculation features were present in 15 (38%), particularly among patients with genetic variants in the head domain. After a median follow-up of 6.1 years (interquartile range, 1.9-13.4), 15 patients (36%) required a heart transplant (n=14) or died due to end-stage heart failure (n=1), 15 patients (36%) persisted with systolic dysfunction despite treatment, 12 (29%) had a significant increase in LV ejection fraction, and 2 were lost to follow-up. Overall, end-stage heart failure event rate was 25% at 5 years. New York Heart Association class III to IV (hazard ratio [HR], 7.67 [95% CI, 2.16-27.2]; P=0.002) and LV ejection fraction <= 35% (HR, 4.00 [95% CI, 1.11-14.4]; P=0.03) were the best predictors of bad prognosis. Conclusions: Pediatric MYH7-related DCM is characterized by early onset, frequent LV hypertrabeculation, and poor prognosis. Advanced New York Heart Association class and low LV ejection fraction emerged as predictors of end-stage heart failure.WILEY2024info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=27024Journal of the American Heart AssociationISSN: 20479980reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déuinstname:Fundació Sant Joan de DéuInglésinfo:eu-repo/semantics/openAccessoai:fsjd.fundanetsuite.com:p270242026-05-27T12:37:41Z
dc.title.none.fl_str_mv Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathy
title Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathy
spellingShingle Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathy
de Frutos F
dilated cardiomyopathy
genetics
MYH7
pediatric
title_short Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathy
title_full Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathy
title_fullStr Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathy
title_full_unstemmed Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathy
title_sort Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathy
dc.creator.none.fl_str_mv de Frutos F
Ochoa JP
Webster G
Jansen M
Remior P
Rasmussen TB
Sabater-Molina M
Barriales-Villa R
Girolami F
Cesar S
Fuentes-Cañamero ME
Alvarez García-Rovés R
Wahbi K
Limeres J
Kubanek M
Slieker MG
Sarquella-Brugada G
Abrams DJ
Dooijes D
Domínguez F
Garcia-Pavia P
author de Frutos F
author_facet de Frutos F
Ochoa JP
Webster G
Jansen M
Remior P
Rasmussen TB
Sabater-Molina M
Barriales-Villa R
Girolami F
Cesar S
Fuentes-Cañamero ME
Alvarez García-Rovés R
Wahbi K
Limeres J
Kubanek M
Slieker MG
Sarquella-Brugada G
Abrams DJ
Dooijes D
Domínguez F
Garcia-Pavia P
author_role author
author2 Ochoa JP
Webster G
Jansen M
Remior P
Rasmussen TB
Sabater-Molina M
Barriales-Villa R
Girolami F
Cesar S
Fuentes-Cañamero ME
Alvarez García-Rovés R
Wahbi K
Limeres J
Kubanek M
Slieker MG
Sarquella-Brugada G
Abrams DJ
Dooijes D
Domínguez F
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
dc.subject.none.fl_str_mv dilated cardiomyopathy
genetics
MYH7
pediatric
topic dilated cardiomyopathy
genetics
MYH7
pediatric
description Background: Although genetic variants in MYH7 are the most frequent cause of pediatric genetic dilated cardiomyopathy (DCM), there are no studies available describing this entity. We sought to describe clinical features, analyze variant location, and explore predictors of bad prognosis in pediatric MYH7-related DCM. Methods and Results: We evaluated clinical records from 44 patients (24 men; median age at diagnosis, 0.54 [interquartile range, 0.01-10.8] years) with pathogenic/likely pathogenic variants in MYH7 diagnosed with DCM at pediatric age (<18 years) followed at 13 international centers. We also explored risk factors associated with a composite end point of end-stage heart failure defined as heart transplantation or heart failure-related death. Twenty-two patients (50%) were diagnosed at age <6 months, including 7 (16%) at birth. Left ventricular (LV) hypertrabeculation features were present in 15 (38%), particularly among patients with genetic variants in the head domain. After a median follow-up of 6.1 years (interquartile range, 1.9-13.4), 15 patients (36%) required a heart transplant (n=14) or died due to end-stage heart failure (n=1), 15 patients (36%) persisted with systolic dysfunction despite treatment, 12 (29%) had a significant increase in LV ejection fraction, and 2 were lost to follow-up. Overall, end-stage heart failure event rate was 25% at 5 years. New York Heart Association class III to IV (hazard ratio [HR], 7.67 [95% CI, 2.16-27.2]; P=0.002) and LV ejection fraction <= 35% (HR, 4.00 [95% CI, 1.11-14.4]; P=0.03) were the best predictors of bad prognosis. Conclusions: Pediatric MYH7-related DCM is characterized by early onset, frequent LV hypertrabeculation, and poor prognosis. Advanced New York Heart Association class and low LV ejection fraction emerged as predictors of end-stage heart failure.
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://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=27024
url https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=27024
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 WILEY
publisher.none.fl_str_mv WILEY
dc.source.none.fl_str_mv Journal of the American Heart Association
ISSN: 20479980
reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname:Fundació Sant Joan de Déu
instname_str Fundació Sant Joan de Déu
reponame_str r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
collection r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869416418692300800
score 15,812429

Similares en LA Referencia