Cardiac MR Imaging of Muscular Dystrophies

Abstract

Muscular dystrophies (MDs) are a group of inherited disorders caused by mutations that interfere with muscular structure, contraction, or relaxation. As the cardiac sarcomeric unit shares multiple proteins with the skeletal muscle unit, the heart is affected in several MDs, sometimes without apparent musculoskeletal involvement. Early detection of MD-related cardiomyopathy is crucial as timely initiation of cardioprotective therapy can slow adverse cardiac remodeling. Although transthoracic echocardiography is widely used for the evaluation of cardiac morphology and function, it has limitations in terms of reproducibility and image quality. The need for an optimal acoustic window may be particularly challenging to obtain in patients with MDs given their body habitus and position. Cardiac magnetic resonance (CMR) imaging has emerged as a useful tool in the evaluation of patients with MDs. Its superb tissue characterization capability through late gadolinium enhancement, T1 mapping, extracellular volume fraction quantification, and edema imaging detects early cardiac involvement, even when echocardiography and electrocardiogram are unremarkable. MDs that frequently present with cardiac involvement include Duchenne MD, Becker MD, Emery Dreifuss MD, Limb-Girdle MDs, and myotonic dystrophy. The purpose of this review article is to briefly describe the pathophysiology of these entities, discuss their clinical presentation and expected evolution, explain the role of CMR in the diagnosis and follow-up of these patients, and portray the different CMR findings present in MD patients.