Role of cardiovascular magnetic resonance in diagnosis and management of muscular dystrophies

Vincenzo Russo; Julien Hudelo; Michał Marchel; Jeremy Florence; Gilles Soulat; Robert Manka; Francois Pontana; Jean Nicolas Dacher; Solenn Toupin; Saman Nazarian; Gerardo Nigro; Karim Wahbi; Theo Pezel

doi:10.1016/j.jocmr.2026.102693

Role of cardiovascular magnetic resonance in diagnosis and management of muscular dystrophies

J Cardiovasc Magn Reson. 2026 Jan 16;28(2):102693. doi: 10.1016/j.jocmr.2026.102693. Online ahead of print.

Authors

Affiliations

¹ Cardiology Unit, University of Campania "Luigi Vanvitelli" - Monaldi Hospital, Naples, Italy. Electronic address: vincenzo.russo@unicampania.it.
² MIRACL.ai laboratory, Multimodality Imaging for Research and Artificial Intelligence Core Laboratory, University Hospital of Lariboisiere (AP-HP), Paris, France; Department of Cardiology, Amiens University Hospital, Amiens, France; DATA-TEMPLE laboratory, Department of Data Science, Machine Learning and Artificial Intelligence in Health, University Hospital of Lariboisiere (AP-HP), Paris, France.
³ 1st Department of Cardiology, Medical University of Warsaw.
⁴ MIRACL.ai laboratory, Multimodality Imaging for Research and Artificial Intelligence Core Laboratory, University Hospital of Lariboisiere (AP-HP), Paris, France; Université Paris Cité, Paris, France; Department of Cardiology, University Hospital of Lariboisiere, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France; Department of Radiology, University Hospital of Lariboisiere, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France.
⁵ MIRACL.ai laboratory, Multimodality Imaging for Research and Artificial Intelligence Core Laboratory, University Hospital of Lariboisiere (AP-HP), Paris, France; Université Paris Cité, Department of Radiology, Hôpital European Georges Pompidou, (Assistance Publique des Hôpitaux de Paris, AP-HP), Paris, France.
⁶ Department of Cardiology, University Heart Center, University Hospital Zurich, University of Zurich, Zurich, Switzerland.
⁷ MIRACL.ai laboratory, Multimodality Imaging for Research and Artificial Intelligence Core Laboratory, University Hospital of Lariboisiere (AP-HP), Paris, France; Department of Cardiovascular Radiology, Univ. Lille, CHU Lille, Institut Pasteur de Lille, Lille, France.
⁸ MIRACL.ai laboratory, Multimodality Imaging for Research and Artificial Intelligence Core Laboratory, University Hospital of Lariboisiere (AP-HP), Paris, France; Université de Rouen, Department of Radiology, CHU de Rouen, Rouen, France.
⁹ MIRACL.ai laboratory, Multimodality Imaging for Research and Artificial Intelligence Core Laboratory, University Hospital of Lariboisiere (AP-HP), Paris, France; DATA-TEMPLE laboratory, Department of Data Science, Machine Learning and Artificial Intelligence in Health, University Hospital of Lariboisiere (AP-HP), Paris, France; Department of Cardiology, University Hospital of Lariboisiere, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France.
¹⁰ Division of Cardiology, Johns Hopkins Hospital, Baltimore, Maryland, USA.
¹¹ Cardiology Unit, University of Campania "Luigi Vanvitelli" - Monaldi Hospital, Naples, Italy.
¹² APHP, Cochin Hospital, Cardiology Department, Centre de Référence des maladies neuromusculaires Nord/Est/Ile-de-France, Paris, France; Associated laboratory Paris Cardiomyopathy Center, IMAGINE Institute, Paris Cité University, Paris, France.
¹³ MIRACL.ai laboratory, Multimodality Imaging for Research and Artificial Intelligence Core Laboratory, University Hospital of Lariboisiere (AP-HP), Paris, France; DATA-TEMPLE laboratory, Department of Data Science, Machine Learning and Artificial Intelligence in Health, University Hospital of Lariboisiere (AP-HP), Paris, France; Associated laboratory Paris Cardiomyopathy Center, IMAGINE Institute, Paris Cité University, Paris, France.

Abstract

Muscular dystrophies encompass a heterogeneous spectrum of inherited myopathies characterized by progressive skeletal muscle degeneration frequently accompanied by life-threatening cardiac involvement. Cardiovascular magnetic resonance (CMR) has become the reference non-invasive imaging modality for the detection, characterization, and longitudinal monitoring of cardiomyopathy involvement across this group of disorders. This state-of-the-art review summarized contemporary evidence on the diagnostic and prognostic value of CMR in the most prevalent muscular dystrophies, including Myotonic dystrophy, Duchenne and Becker muscular dystrophies, Emery-Dreifuss muscular dystrophy, laminopathies, facioscapulohumeral muscular dystrophy, and mitochondrial myopathies. CMR uniquely enables high-resolution assessment of ventricular volumes and function, tissue characterization through late gadolinium enhancement (LGE) and parametric mapping (native T1, T2, extracellular volume fraction), and quantitative strain imaging. These techniques uncover subclinical myocardial involvement years before overt dysfunction occurs, providing a robust substrate for early therapeutic intervention. Disease-specific CMR signatures, such as inferolateral subepicardial fibrosis in dystrophinopathies or mid-wall septal enhancement in laminopathies, allow for refined etiological diagnosis and targeted risk stratification. LGE burden and distribution are independently associated with ventricular arrhythmias and adverse cardiac events, transcending the limitations of traditional criteria based on left ventricular ejection fraction for implantable cardioverter-defibrillator selection. Emerging evidence further supports the integration of CMR biomarkers into genotype-guided management strategies and prospective therapeutic trials.

Keywords: Arrhythmias; Cardiovascular magnetic resonance; Late gadolinium enhancement; Muscular dystrophy; Myotonic dystrophy; Sudden death.

Publication types

Review