Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathy
Por:
de Frutos F, Ochoa JP, Webster G, Jansen M, Remior P, Rasmussen TB, Sabater-Molina M, Barriales-Villa R, Girolami F, César-Díaz 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 and Garcia-Pavia P
Publicada:
5 nov 2024
Ahead of Print:
4 nov 2024
Resumen:
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.
Filiaciones:
de Frutos F:
Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro IDIPHISA Madrid Spain
CIBER Cardiovascular Instituto de Salud Carlos III Madrid Spain
European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart Amsterdam the Netherlands
Centro Nacional de Investigaciones Cardiovasculares (CNIC) Madrid Spain
Ochoa JP:
Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro IDIPHISA Madrid Spain
CIBER Cardiovascular Instituto de Salud Carlos III Madrid Spain
European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart Amsterdam the Netherlands
Centro Nacional de Investigaciones Cardiovasculares (CNIC) Madrid Spain
Webster G:
Ann & Robert H. Lurie Children's Hospital of Chicago, Division of Cardiology Northwestern University Feinberg School of Medicine Chicago IL USA
Jansen M:
European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart Amsterdam the Netherlands
Department of Genetics, University Medical Centre Utrecht Utrecht University Utrecht the Netherlands
Department of Cardiology, University Medical Centre Utrecht Utrecht University Utrecht the Netherlands
Remior P:
Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro IDIPHISA Madrid Spain
CIBER Cardiovascular Instituto de Salud Carlos III Madrid Spain
European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart Amsterdam the Netherlands
Department of Cardiology, Boston Children's Hospital Harvard Medical School Boston MA USA
Rasmussen TB:
Department of Cardiology Aarhus University Hospital Aarhus Denmark
Sabater-Molina M:
CIBER Cardiovascular Instituto de Salud Carlos III Madrid Spain
European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart Amsterdam the Netherlands
Laboratorio de Cardiogenética, IMIB-Arrixaca Universidad de Murcia Spain
Barriales-Villa R:
CIBER Cardiovascular Instituto de Salud Carlos III Madrid Spain
Unidad de Cardiopatías Familiares Complexo Hospitalario Universitario A Coruña, INIBIC A Coruña Spain
Girolami F:
Cardiology Unit Meyer Children's Hospital IRCCS Florence Italy
César-Díaz S:
European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart Amsterdam the Netherlands
Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit Hospital Sant Joan de Déu, Esplugues de Llobregat Barcelona Spain
Arrítmies pediàtriques, cardiologia genètica i mort sobtada, Malalties Cardiovasculars en el desenvolupament Institut de Recerca Sant Joan de Déu Esplugues de Llobregat, Barcelona Spain
Fuentes-Cañamero ME:
Complejo Hospitalario Universitario de Badajoz Spain
Alvarez García-Rovés R:
Inheritance Cardiovascular Disease Unit, Pediatric Cardiology Hospital Materno Infantil Gregorio Marañón Madrid Spain
Facultad de Medicina Universidad Complutense Madrid Spain
Instituto de Investigación Sanitaria Gregorio Marañón Madrid Spain
Wahbi K:
Cardiology Department AP-HP, Cochin Hospital Paris Cedex 14 France
Faculté de Médecine Paris Université Paris-Cité Paris France
Limeres J:
CIBER Cardiovascular Instituto de Salud Carlos III Madrid Spain
European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart Amsterdam the Netherlands
Inherited Cardiac Diseases Unit, Cardiology Department Vall Hebron Hospital Barcelona Spain
Vall Hebron Research Unit (VHIR) Universitat Autònoma Barcelona (UAB) Barcelona Spain
Kubanek M:
Department of Cardiology Institute for Clinical and Experimental Medicine Prague Czech Republic
Slieker MG:
European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart Amsterdam the Netherlands
Department of Pediatric Cardiology, University Medical Centre Utrecht Utrecht University Utrecht the Netherlands
Sarquella-Brugada G:
European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart Amsterdam the Netherlands
Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit Hospital Sant Joan de Déu, Esplugues de Llobregat Barcelona Spain
Arrítmies pediàtriques, cardiologia genètica i mort sobtada, Malalties Cardiovasculars en el desenvolupament Institut de Recerca Sant Joan de Déu Esplugues de Llobregat, Barcelona Spain
Medical Science Department, School of Medicine Universitat de Girona Spain
Department of Pediatrics, School of Medicine and Health Sciences Universitat de Barcelona Spain
Abrams DJ:
Department of Cardiology, Boston Children's Hospital Harvard Medical School Boston MA USA
Dooijes D:
European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart Amsterdam the Netherlands
Department of Genetics, University Medical Centre Utrecht Utrecht University Utrecht the Netherlands
Domínguez F:
Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro IDIPHISA Madrid Spain
CIBER Cardiovascular Instituto de Salud Carlos III Madrid Spain
European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart Amsterdam the Netherlands
Centro Nacional de Investigaciones Cardiovasculares (CNIC) Madrid Spain
Garcia-Pavia P:
Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro IDIPHISA Madrid Spain
CIBER Cardiovascular Instituto de Salud Carlos III Madrid Spain
European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart Amsterdam the Netherlands
Centro Nacional de Investigaciones Cardiovasculares (CNIC) Madrid Spain
Universidad Francisco de Vitoria Pozuelo de Alarcón Spain
Green Submitted, gold
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