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...

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Autores: de Frutos, Fernando, Ochoa, Juan Pablo, Webster, Gregory, Jansen, Mark, Remior, Paloma, Rasmussen, Torsten B., Sabater-Molina, Maria, Barriales-Villa, Roberto, Girolami, Francesca, Cesar, Sergi, Fuentes-Cañamero, M. Eugenia, García-Rovés, Reyes Alvarez, Wahbi, Karim, Limeres, Javier, Kubanek, Milos, Slieker, Martijn G., Sarquella-Brugada, Georgia, Abrams, Dominic J., Dooijes, Dennis, Domínguez, Fernando, Garcia-Pavia, Pablo
Tipo de recurso: artículo
Fecha de publicación:2024
País:España
Institución:Universidad Francisco de Vitoria
Repositorio:DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
Idioma:inglés
OAI Identifier:oai:ddfv.ufv.es:10641/7309
Acceso en línea:https://hdl.handle.net/10641/7309
Access Level:acceso abierto
Palabra clave:MYH7
dilated cardiomyopathy
genetics
pediatric
Cardiology and Cardiovascular Medicine
Journal Article
Multicenter Study
Yes
yes
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spelling Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathyde Frutos, FernandoOchoa, Juan PabloWebster, GregoryJansen, MarkRemior, PalomaRasmussen, Torsten B.Sabater-Molina, MariaBarriales-Villa, RobertoGirolami, FrancescaCesar, SergiFuentes-Cañamero, M. EugeniaGarcía-Rovés, Reyes AlvarezWahbi, KarimLimeres, JavierKubanek, MilosSlieker, Martijn G.Sarquella-Brugada, GeorgiaAbrams, Dominic J.Dooijes, DennisDomínguez, FernandoGarcia-Pavia, PabloMYH7dilated cardiomyopathygeneticspediatricCardiology and Cardiovascular MedicineJournal ArticleMulticenter StudyYesyesBACKGROUND: 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.Facultad de Medicina20242024-01-0120242024-01-01journal articlehttp://purl.org/coar/resource_type/c_6501info:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/10641/7309reponame:DDFV. Repositorio Institucional de la Universidad Francisco de Vitoriainstname:Universidad Francisco de VitoriaInglésengopen accesshttp://purl.org/coar/access_right/c_abf2http://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessoai:ddfv.ufv.es:10641/73092026-06-11T12:44:57Z
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, Fernando
MYH7
dilated cardiomyopathy
genetics
pediatric
Cardiology and Cardiovascular Medicine
Journal Article
Multicenter Study
Yes
yes
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, Fernando
Ochoa, Juan Pablo
Webster, Gregory
Jansen, Mark
Remior, Paloma
Rasmussen, Torsten B.
Sabater-Molina, Maria
Barriales-Villa, Roberto
Girolami, Francesca
Cesar, Sergi
Fuentes-Cañamero, M. Eugenia
García-Rovés, Reyes Alvarez
Wahbi, Karim
Limeres, Javier
Kubanek, Milos
Slieker, Martijn G.
Sarquella-Brugada, Georgia
Abrams, Dominic J.
Dooijes, Dennis
Domínguez, Fernando
Garcia-Pavia, Pablo
author de Frutos, Fernando
author_facet de Frutos, Fernando
Ochoa, Juan Pablo
Webster, Gregory
Jansen, Mark
Remior, Paloma
Rasmussen, Torsten B.
Sabater-Molina, Maria
Barriales-Villa, Roberto
Girolami, Francesca
Cesar, Sergi
Fuentes-Cañamero, M. Eugenia
García-Rovés, Reyes Alvarez
Wahbi, Karim
Limeres, Javier
Kubanek, Milos
Slieker, Martijn G.
Sarquella-Brugada, Georgia
Abrams, Dominic J.
Dooijes, Dennis
Domínguez, Fernando
Garcia-Pavia, Pablo
author_role author
author2 Ochoa, Juan Pablo
Webster, Gregory
Jansen, Mark
Remior, Paloma
Rasmussen, Torsten B.
Sabater-Molina, Maria
Barriales-Villa, Roberto
Girolami, Francesca
Cesar, Sergi
Fuentes-Cañamero, M. Eugenia
García-Rovés, Reyes Alvarez
Wahbi, Karim
Limeres, Javier
Kubanek, Milos
Slieker, Martijn G.
Sarquella-Brugada, Georgia
Abrams, Dominic J.
Dooijes, Dennis
Domínguez, Fernando
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
dc.contributor.none.fl_str_mv Facultad de Medicina
dc.subject.none.fl_str_mv MYH7
dilated cardiomyopathy
genetics
pediatric
Cardiology and Cardiovascular Medicine
Journal Article
Multicenter Study
Yes
yes
topic MYH7
dilated cardiomyopathy
genetics
pediatric
Cardiology and Cardiovascular Medicine
Journal Article
Multicenter Study
Yes
yes
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
2024-01-01
2024
2024-01-01
dc.type.none.fl_str_mv journal article
http://purl.org/coar/resource_type/c_6501
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://hdl.handle.net/10641/7309
url https://hdl.handle.net/10641/7309
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

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

http://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
instname:Universidad Francisco de Vitoria
instname_str Universidad Francisco de Vitoria
reponame_str DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
collection DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
repository.name.fl_str_mv
repository.mail.fl_str_mv
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