Clinical Features and Outcomes of Pediatric MYH7 ‐Related Dilated Cardiomyopathy
Year: 2024
Type: article
Study design: Observational Study
Abstract: 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.
Authors: Fernando de Frutos, Juan Pablo Ochoa, Gregory Webster, Mark Jansen, Paloma Remior, Torsten B. Rasmussen, Maria Sabater‐Molina, Roberto Barriales‐Villa, Francesca Girolami, Sergi Cesar, M. Eugenia Fuentes‐Cañamero, Reyes Alvarez García‐Rovés, Karim Wahbi, Javier Limeres, Milos Kubanek, Martijn G. Slieker, Georgia Sarquella‐Brugada, Dominic J. Abrams, Dennis Dooijes, Fernando Domínguez, Pablo Garcia‐Pavia, for the European Genetic Cardiomyopathies Initiative Investigators
Institutions: Instituto de Salud Carlos III, Spanish National Centre for Cardiovascular Research, Hospital Universitario Puerta de Hierro Majadahonda, Centro de Investigación Biomédica en Red, ERN GUARD-Heart, Northwestern University, Lurie Children's Hospital, Utrecht University, University Medical Center Utrecht, Boston Children's Hospital, Harvard University, Aarhus University Hospital, Instituto Murciano de Investigación Biosanitaria, Universidad de Murcia, Complexo Hospitalario Universitario A Coruña, Instituto de Investigación Biomédica de A Coruña, Meyer Children's Hospital, Hospital Sant Joan de Déu Barcelona, Institut de Recerca Sant Joan de Déu, Universidad Complutense de Madrid, Hospital General Universitario Gregorio Marañón, Instituto de Investigación Sanitaria Gregorio Marañón, Université Paris Cité, Hôpital Cochin, Assistance Publique – Hôpitaux de Paris, Universitat Autònoma de Barcelona, Vall d'Hebron Institut de Recerca, Vall d'Hebron Hospital Universitari, Institute of Clinical and Experimental Medicine, Universitat de Girona, Universitat de Barcelona, Universidad Francisco de Vitoria
Language: English
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,700
Funders: Aarhus Universitet, Aarhus Universitetshospital, Universitat de Girona, Universidad Francisco de Vitoria, Dutch Cardiovascular Alliance, European Commission, Universiteit Utrecht, Ministerstvo Zdravotnictví Ceské Republiky, Universidad de Murcia, Ministerio de Ciencia e Innovación, Universitat de Barcelona, Centro Nacional de Investigaciones Cardiovasculares, Fundació Institut de Recerca Hospital Universitari Vall d’Hebron, Instituto de Investigación Sanitaria Gregorio Marañón, Instituto de Salud Carlos III, European Regional Development Fund
OpenAlex ID: W4404045896