Luca Bello, Daniele Sabbatini, Aurora Fusto, Domenico Gorgoglione, Giovanni Umberto Borin, Martina Penzo, Pietro Riguzzi, Matteo Villa, Sara Vianello, Chiara Calore, Paola Melacini, Riccardo Vio, Andrea Barp, Grazia D'Angelo, Sandra Gandossini, Luisa Politano, Angela Berardinelli, Sonia Messina, Gian Luca Vita, Marina Pedemonte, Claudio Bruno, Emilio Albamonte, Valeria Sansone, Giovanni Baranello, Riccardo Masson, Guja Astrea, Adele D'Amico, Enrico Bertini, Marika Pane, Simona Lucibello, Eugenio Mercuri, Christopher Spurney, Paula Clemens, Lauren Morgenroth, Heather Gordish-Dressman, Craig M McDonald, Eric P Hoffman, Elena Pegoraro
BACKGROUND: Dilated cardiomyopathy (DCM) is a major complication of, and leading cause of mortality in Duchenne muscular dystrophy (DMD). Its severity, age at onset, and rate of progression display wide variability, whose molecular bases have been scarcely elucidated. Potential DCM-modifying factors include glucocorticoid (GC) and cardiological treatments, DMD mutation type and location, and variants in other genes. METHODS AND RESULTS: We retrospectively collected 3138 echocardiographic measurements of left ventricular ejection fraction (EF), shortening fraction (SF), and end-diastolic volume (EDV) from 819 DMD participants, 541 from an Italian multicentric cohort and 278 from the Cooperative International Neuromuscular Group Duchenne Natural History Study (CINRG-DNHS)...
February 16, 2024: Journal of Neuromuscular Diseases