Chest
Clinical Investigations: Nerves and MuscleCardiac and Sternocleidomastoid Muscle Involvement in Duchenne Muscular Dystrophy: An MRI Study
Section snippets
Patients and Methods
Seventeen male patients with DMD (age range, 7 to 25 years) and 17 age-matched male control subjects were included in the study. Five of the patients and five control subjects were children (age range, 7 to 12 years). The diagnosis of DMD was initially based on the characteristic clinical history and neuromuscular findings, and was supported by electromyography, muscular biopsy with special dystrophin immunostaining, and DNA testing. All patients were free of cardiac or respiratory complaints
Results
Table 1 shows pulmonary function testing parameters in patients and age-matched control subjects. FVC and FEV1 values (both absolute and percentage of predicted) were lower in patients with DMD than in age-matched control subjects. Unlike the adults, children with DMD had FVC and FEV1 values similar to those of the age-matched control subjects. The FEV1/FVC ratio was normal in all subjects.
Figure 1 shows representative MRI images from which the data were derived in a patient with DMD. In
Discussion
In a group of patients with DMD, with no cardiorespiratory symptoms, MRI measurements of T2 relaxation time in the myocardium and the SCM were lower than in age-matched control subjects. Unlike the T2 values in the healthy volunteers, in the patient group the older the patient the lower the myocardial T2 relaxation time.
DMD is a myopathy characterized by a defect in the p21 band of the X chromosome that is responsible for dystrophin, a protein located on the inner surface of the sarcolemma. In
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Imaging the heart to detect cardiomyopathy in Duchenne muscular dystrophy: A review
2018, Neuromuscular DisordersCitation Excerpt :The apical region of the left and right ventricle can be visualised better with CMRI [49], and there is no associated radiation. There are several recent studies investigating the utility of CMRI in DMD-CM [5,45,46,50,102–107]. CMRI identifies myocardial damage in DMD before decline in ejection fraction is detected with echocardiography [45,108].
Female dystrophinopathy: Review of current literature
2018, Neuromuscular DisordersCitation Excerpt :In recent years, cardiac magnetic resonance (CMR) has attracted attention as a useful tool for the early detection of cardiomyopathy. CMR can detect the earliest signs of cardiomyopathy in DMD patients [18–20]. Some papers have shown that late gadolinium enhancement (LGE) enables the detection of myocardial fibrosis in cardiomyopathy patients [21,22].
Cardiac MRI in Muscular Dystrophy: An Overview and Future Directions
2012, Physical Medicine and Rehabilitation Clinics of North AmericaCitation Excerpt :Inflammation will increase T2 relaxation rate, whereas conditions such as fibrosis will shorten the T2 relaxation rate. An examination in 17 patients and matched controls showed reduction in T2 within heart and sternocleidomastoid muscle, with the authors concluding that this biomarker may have substantial efficacy for measuring abnormal tissue features.27 Although this idea has theoretical validity, a letter in response to this study described the substantial difficulties in study interpretation without the collection of complete cardiac metrics, most specifically LGE, that would confirm the presence of structural abnormalities.28
Dystrophinopathies
2011, Handbook of Clinical NeurologyCitation Excerpt :Brain imaging with fluorodeoxyglucose positron emission tomography shows hypometabolism in the cerebellum (Lee et al., 2002). MRI has also been used to evaluate the heart in DMD/BMD, demonstrating abnormal T2 relaxation times in asymptomatic patients that were more prominent in older patients (Mavrogeni et al., 2005). Cardiac MRI detects strain in patients with DMD before clinical symptoms appear (Ashford et al., 2005).
Cardiovascular magnetic resonance imaging evaluation of two families with Becker muscular dystrophy
2010, Neuromuscular DisordersCitation Excerpt :Furthermore, PET data showed that both DMD and BMD demonstrated significant regional perfusion/metabolism mismatches [19]. CMR, a new non-invasive, non-radiating technique has been used for the early detection of heart involvement in different types of muscular dystrophies [10,11,20–23]. We acknowledge that PET and TDE represent promising tools for the early detection of subclinical LV dysfunction in BMD patients.
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