-
Something wrong with this record ?
Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathy
F. de Frutos, JP. Ochoa, G. Webster, M. Jansen, P. Remior, TB. Rasmussen, M. Sabater-Molina, R. Barriales-Villa, F. Girolami, S. Cesar, ME. Fuentes-Cañamero, R. Alvarez García-Rovés, K. Wahbi, J. Limeres, M. Kubanek, MG. Slieker, G....
Language English Country England, Great Britain
Document type Journal Article, Multicenter Study
NLK
Directory of Open Access Journals
from 2012
Free Medical Journals
from 2012
PubMed Central
from 2012
Europe PubMed Central
from 2012
Open Access Digital Library
from 2012-01-01
Open Access Digital Library
from 2012-01-01
Open Access Digital Library
from 2015-01-01
Wiley-Blackwell Open Access Titles
from 2012
ROAD: Directory of Open Access Scholarly Resources
from 2012
- MeSH
- Cardiomyopathy, Dilated * genetics physiopathology diagnosis MeSH
- Child MeSH
- Phenotype MeSH
- Ventricular Function, Left MeSH
- Genetic Predisposition to Disease MeSH
- Infant MeSH
- Humans MeSH
- Adolescent MeSH
- Mutation MeSH
- Infant, Newborn MeSH
- Child, Preschool MeSH
- Prognosis MeSH
- Retrospective Studies MeSH
- Risk Factors MeSH
- Cardiac Myosins * genetics MeSH
- Heart Failure genetics physiopathology diagnosis MeSH
- Myosin Heavy Chains * genetics MeSH
- Heart Transplantation * MeSH
- Check Tag
- Child MeSH
- Infant MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Infant, Newborn MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Multicenter Study MeSH
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.
Cardiology Department AP HP Cochin Hospital Paris Cedex 14 France
Cardiology Unit Meyer Children's Hospital IRCCS Florence Italy
Centro Nacional de Investigaciones Cardiovasculares Madrid Spain
CIBER Cardiovascular Instituto de Salud Carlos 3 Madrid Spain
Complejo Hospitalario Universitario de Badajoz Spain
Department of Cardiology Aarhus University Hospital Aarhus Denmark
Department of Cardiology Boston Children's Hospital Harvard Medical School Boston MA USA
Department of Cardiology Institute for Clinical and Experimental Medicine Prague Czech Republic
Department of Genetics University Medical Centre Utrecht Utrecht University Utrecht the Netherlands
Department of Pediatrics School of Medicine and Health Sciences Universitat de Barcelona Spain
Facultad de Medicina Universidad Complutense Madrid Spain
Faculté de Médecine Paris Université Paris Cité Paris France
Inherited Cardiac Diseases Unit Cardiology Department Vall Hebron Hospital Barcelona Spain
Instituto de Investigación Sanitaria Gregorio Marañón Madrid Spain
Laboratorio de Cardiogenética IMIB Arrixaca Universidad de Murcia Spain
Medical Science Department School of Medicine Universitat de Girona Spain
Unidad de Cardiopatías Familiares Complexo Hospitalario Universitario A Coruña INIBIC A Coruña Spain
References provided by Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc25003519
- 003
- CZ-PrNML
- 005
- 20250206104405.0
- 007
- ta
- 008
- 250121s2024 enk f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1161/JAHA.124.036208 $2 doi
- 035 __
- $a (PubMed)39494569
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a enk
- 100 1_
- $a de Frutos, Fernando $u Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro IDIPHISA Madrid Spain $u CIBER Cardiovascular Instituto de Salud Carlos III Madrid Spain $u European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart Amsterdam the Netherlands $u Centro Nacional de Investigaciones Cardiovasculares (CNIC) Madrid Spain $1 https://orcid.org/0000000343503217
- 245 10
- $a Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathy / $c F. de Frutos, JP. Ochoa, G. Webster, M. Jansen, P. Remior, TB. Rasmussen, M. Sabater-Molina, R. Barriales-Villa, F. Girolami, S. Cesar, ME. Fuentes-Cañamero, R. Alvarez García-Rovés, K. Wahbi, J. Limeres, M. Kubanek, MG. Slieker, G. Sarquella-Brugada, DJ. Abrams, D. Dooijes, F. Domínguez, P. Garcia-Pavia, European Genetic Cardiomyopathies Initiative Investigators
- 520 9_
- $a 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.
- 650 _2
- $a lidé $7 D006801
- 650 12
- $a dilatační kardiomyopatie $x genetika $x patofyziologie $x diagnóza $7 D002311
- 650 _2
- $a mužské pohlaví $7 D008297
- 650 12
- $a těžké řetězce myosinu $x genetika $7 D018995
- 650 _2
- $a ženské pohlaví $7 D005260
- 650 _2
- $a dítě $7 D002648
- 650 12
- $a srdeční myosiny $x genetika $7 D024722
- 650 _2
- $a předškolní dítě $7 D002675
- 650 _2
- $a kojenec $7 D007223
- 650 12
- $a transplantace srdce $7 D016027
- 650 _2
- $a novorozenec $7 D007231
- 650 _2
- $a prognóza $7 D011379
- 650 _2
- $a rizikové faktory $7 D012307
- 650 _2
- $a retrospektivní studie $7 D012189
- 650 _2
- $a mladiství $7 D000293
- 650 _2
- $a srdeční selhání $x genetika $x patofyziologie $x diagnóza $7 D006333
- 650 _2
- $a genetická predispozice k nemoci $7 D020022
- 650 _2
- $a mutace $7 D009154
- 650 _2
- $a fenotyp $7 D010641
- 650 _2
- $a funkce levé komory srdeční $7 D016277
- 655 _2
- $a časopisecké články $7 D016428
- 655 _2
- $a multicentrická studie $7 D016448
- 700 1_
- $a Ochoa, Juan Pablo $u Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro IDIPHISA Madrid Spain $u CIBER Cardiovascular Instituto de Salud Carlos III Madrid Spain $u European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart Amsterdam the Netherlands $u Centro Nacional de Investigaciones Cardiovasculares (CNIC) Madrid Spain
- 700 1_
- $a Webster, Gregory $u Ann & Robert H. Lurie Children's Hospital of Chicago, Division of Cardiology Northwestern University Feinberg School of Medicine Chicago IL USA $1 https://orcid.org/0000000291078342
- 700 1_
- $a Jansen, Mark $u European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart Amsterdam the Netherlands $u Department of Genetics, University Medical Centre Utrecht Utrecht University Utrecht the Netherlands $u Department of Cardiology, University Medical Centre Utrecht Utrecht University Utrecht the Netherlands $1 https://orcid.org/0000000208964440
- 700 1_
- $a Remior, Paloma $u Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro IDIPHISA Madrid Spain $u CIBER Cardiovascular Instituto de Salud Carlos III Madrid Spain $u European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart Amsterdam the Netherlands $u Department of Cardiology, Boston Children's Hospital Harvard Medical School Boston MA USA $1 https://orcid.org/0000000277684469
- 700 1_
- $a Rasmussen, Torsten B $u Department of Cardiology Aarhus University Hospital Aarhus Denmark
- 700 1_
- $a Sabater-Molina, Maria $u CIBER Cardiovascular Instituto de Salud Carlos III Madrid Spain $u European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart Amsterdam the Netherlands $u Laboratorio de Cardiogenética, IMIB-Arrixaca Universidad de Murcia Spain $1 https://orcid.org/0000000313521748
- 700 1_
- $a Barriales-Villa, Roberto $u CIBER Cardiovascular Instituto de Salud Carlos III Madrid Spain $u Unidad de Cardiopatías Familiares Complexo Hospitalario Universitario A Coruña, INIBIC A Coruña Spain $1 https://orcid.org/0000000267213487
- 700 1_
- $a Girolami, Francesca $u Cardiology Unit Meyer Children's Hospital IRCCS Florence Italy $1 https://orcid.org/0000000191433597
- 700 1_
- $a Cesar, Sergi $u European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart Amsterdam the Netherlands $u Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit Hospital Sant Joan de Déu, Esplugues de Llobregat Barcelona Spain $u Arrítmies pediàtriques, cardiologia genètica i mort sobtada, Malalties Cardiovasculars en el desenvolupament Institut de Recerca Sant Joan de Déu Esplugues de Llobregat, Barcelona Spain $1 https://orcid.org/0000000227981756
- 700 1_
- $a Fuentes-Cañamero, M Eugenia $u Complejo Hospitalario Universitario de Badajoz Spain $1 https://orcid.org/0000000312391275
- 700 1_
- $a Alvarez García-Rovés, Reyes $u Inheritance Cardiovascular Disease Unit, Pediatric Cardiology Hospital Materno Infantil Gregorio Marañón Madrid Spain $u Facultad de Medicina Universidad Complutense Madrid Spain $u Instituto de Investigación Sanitaria Gregorio Marañón Madrid Spain
- 700 1_
- $a Wahbi, Karim $u Cardiology Department AP-HP, Cochin Hospital Paris Cedex 14 France $u Faculté de Médecine Paris Université Paris-Cité Paris France $1 https://orcid.org/0000000176827387
- 700 1_
- $a Limeres, Javier $u CIBER Cardiovascular Instituto de Salud Carlos III Madrid Spain $u European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart Amsterdam the Netherlands $u Inherited Cardiac Diseases Unit, Cardiology Department Vall Hebron Hospital Barcelona Spain $u Vall Hebron Research Unit (VHIR) Universitat Autònoma Barcelona (UAB) Barcelona Spain $1 https://orcid.org/0000000336449494
- 700 1_
- $a Kubanek, Milos $u Department of Cardiology Institute for Clinical and Experimental Medicine Prague Czech Republic $1 https://orcid.org/0000000318640949 $7 xx0083616
- 700 1_
- $a Slieker, Martijn G $u European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart Amsterdam the Netherlands $u Department of Pediatric Cardiology, University Medical Centre Utrecht Utrecht University Utrecht the Netherlands $1 https://orcid.org/000000018198511X
- 700 1_
- $a Sarquella-Brugada, Georgia $u European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart Amsterdam the Netherlands $u Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit Hospital Sant Joan de Déu, Esplugues de Llobregat Barcelona Spain $u Arrítmies pediàtriques, cardiologia genètica i mort sobtada, Malalties Cardiovasculars en el desenvolupament Institut de Recerca Sant Joan de Déu Esplugues de Llobregat, Barcelona Spain $u Medical Science Department, School of Medicine Universitat de Girona Spain $u Department of Pediatrics, School of Medicine and Health Sciences Universitat de Barcelona Spain $1 https://orcid.org/0000000268578904
- 700 1_
- $a Abrams, Dominic J $u Department of Cardiology, Boston Children's Hospital Harvard Medical School Boston MA USA $1 https://orcid.org/0000000152662805
- 700 1_
- $a Dooijes, Dennis $u European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart Amsterdam the Netherlands $u Department of Genetics, University Medical Centre Utrecht Utrecht University Utrecht the Netherlands $1 https://orcid.org/0000000303125354
- 700 1_
- $a Domínguez, Fernando $u Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro IDIPHISA Madrid Spain $u CIBER Cardiovascular Instituto de Salud Carlos III Madrid Spain $u European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart Amsterdam the Netherlands $u Centro Nacional de Investigaciones Cardiovasculares (CNIC) Madrid Spain $1 https://orcid.org/000000018408363X
- 700 1_
- $a Garcia-Pavia, Pablo $u Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro IDIPHISA Madrid Spain $u CIBER Cardiovascular Instituto de Salud Carlos III Madrid Spain $u European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart Amsterdam the Netherlands $u Centro Nacional de Investigaciones Cardiovasculares (CNIC) Madrid Spain $u Universidad Francisco de Vitoria Pozuelo de Alarcón Spain $1 https://orcid.org/0000000254702257
- 710 2_
- $a European Genetic Cardiomyopathies Initiative Investigators
- 773 0_
- $w MED00188127 $t Journal of the American Heart Association $x 2047-9980 $g Roč. 13, č. 21 (2024), s. e036208
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/39494569 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y - $z 0
- 990 __
- $a 20250121 $b ABA008
- 991 __
- $a 20250206104400 $b ABA008
- 999 __
- $a ok $b bmc $g 2263338 $s 1239526
- BAS __
- $a 3
- BAS __
- $a PreBMC-MEDLINE
- BMC __
- $a 2024 $b 13 $c 21 $d e036208 $e 20241104 $i 2047-9980 $m Journal of the American Heart Association $n J Am Heart Assoc $x MED00188127
- LZP __
- $a Pubmed-20250121
