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Muscular Dystrophy
Mina F. Hanna, MD; Sachin Saboo, MD, FRCR; Prabhakar Rajiah, MBBS, MD, FRCR, FSCMR
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          TERMINOLOGY

          • Abbreviations

            • Muscular dystrophy (MD)
            • Duchenne MD (DMD), Becker MD (BMD), Limb-Girdle MD (LGMD), Emery-Dreifuss MD (EDMD)
            • Myotonic dystrophy (DM)
          • Definitions

            • Inherited muscle diseases with progressive weakness and wasting of skeletal muscles of varying distribution and severity
              • Genetic mutation of proteins involved in induction of muscular contractile force &/or prevents muscular relaxation
              • Heart is involved in several muscular dystrophies
                • May be predominant manifestation
                • Due to shared proteins of cardiac and skeletal muscles

          IMAGING

          • General Features

            • CT Findings

              • MR Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • Molecular Basis

                      CLINICAL ISSUES

                      • Presentation

                        • Natural History & Prognosis

                          • Treatment

                            DIAGNOSTIC CHECKLIST

                            • Consider

                              • Image Interpretation Pearls

                                Selected References

                                1. Magrath P et al: Cardiac MRI biomarkers for Duchenne muscular dystrophy. Biomark Med. ePub, 2018
                                2. Marty B et al: Comprehensive evaluation of structural and functional myocardial impairments in Becker muscular dystrophy using quantitative cardiac magnetic resonance imaging. Eur Heart J Cardiovasc Imaging. ePub, 2018
                                3. Power LC et al: Imaging the heart to detect cardiomyopathy in Duchenne muscular dystrophy: A review. Neuromuscul Disord. 28(9):717-730, 2018
                                4. Siegel B et al: Myocardial Strain Using Cardiac MR Feature Tracking and Speckle Tracking Echocardiography in Duchenne Muscular Dystrophy Patients. Pediatr Cardiol. 39(3):478-483, 2018
                                5. Kalisz K et al: Computed tomography of cardiomyopathies. Cardiovasc Diagn Ther. 7(5):539-556, 2017
                                6. Roller FC et al: Value of Cardiac T1-Mapping and ECV Quantification in Duchenne Muscular Dystrophy (DMD): Case Report, Typical Imaging Findings and Review of the Literature. Rofo. 189(1):75-77, 2017
                                7. Choudhary P et al: Structural and electrical cardiac abnormalities are prevalent in asymptomatic adults with myotonic dystrophy. Heart. 102(18):1472-8, 2016
                                8. Olivieri LJ et al: Native T1 values identify myocardial changes and stratify disease severity in patients with Duchenne muscular dystrophy. J Cardiovasc Magn Reson. 18(1):72, 2016
                                9. Brunklaus A et al: The value of cardiac MRI versus echocardiography in the pre-operative assessment of patients with Duchenne muscular dystrophy. Eur J Paediatr Neurol. 19(4):395-401, 2015
                                10. Soslow JH et al: Evaluation of post-contrast myocardial t1 in duchenne muscular dystrophy using cardiac magnetic resonance imaging. Pediatr Cardiol. 36(1):49-56, 2015
                                11. Tandon A et al: Dystrophin genotype-cardiac phenotype correlations in Duchenne and Becker muscular dystrophies using cardiac magnetic resonance imaging. Am J Cardiol. 115(7):967-71, 2015
                                12. Tandon A et al: Myocardial fibrosis burden predicts left ventricular ejection fraction and is associated with age and steroid treatment duration in duchenne muscular dystrophy. J Am Heart Assoc. 4(4), 2015
                                13. Florian A et al: Left ventricular systolic function and the pattern of late-gadolinium-enhancement independently and additively predict adverse cardiac events in muscular dystrophy patients. J Cardiovasc Magn Reson. 16(1):81, 2014
                                14. Otto RK et al: Cardiac MRI in muscular dystrophy: an overview and future directions. Phys Med Rehabil Clin N Am. 23(1):123-32, xi-xii, 2012
                                15. Verhaert D et al: Cardiac involvement in patients with muscular dystrophies: magnetic resonance imaging phenotype and genotypic considerations. Circ Cardiovasc Imaging. 4(1):67-76, 2011
                                16. Taylor AJ et al: ACCF/SCCT/ACR/AHA/ASE/ASNC/NASCI/SCAI/SCMR 2010 Appropriate Use Criteria for Cardiac Computed Tomography. A Report of the American College of Cardiology Foundation Appropriate Use Criteria Task Force, the Society of Cardiovascular Computed Tomography, the American College of Radiology, the American Heart Association, the American Society of Echocardiography, the American Society of Nuclear Cardiology, the North American Society for Cardiovascular Imaging, the Society for Cardiovascular Angiography and Interventions, and the Society for Cardiovascular Magnetic Resonance. J Cardiovasc Comput Tomogr. 4(6):407.e1-33, 2010
                                17. Emery AE: Muscular dystrophy into the new millennium. Neuromuscul Disord. 12(4):343-9, 2002
                                18. Buckley AE et al: Cardiac involvement in Emery Dreifuss muscular dystrophy: a case series. Heart. 82(1):105-8, 1999
                                19. T1 mapping in Becker muscular dystrophy patients detects diffuse microfibrosis prior to evidence of late gadolinium enhancement or cardiac dysfunction
                                Related Anatomy
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                                Related Differential Diagnoses
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                                References
                                Tables

                                Tables

                                KEY FACTS

                                • Terminology

                                  • Imaging

                                    • Top Differential Diagnoses

                                      • Clinical Issues

                                        TERMINOLOGY

                                        • Abbreviations

                                          • Muscular dystrophy (MD)
                                          • Duchenne MD (DMD), Becker MD (BMD), Limb-Girdle MD (LGMD), Emery-Dreifuss MD (EDMD)
                                          • Myotonic dystrophy (DM)
                                        • Definitions

                                          • Inherited muscle diseases with progressive weakness and wasting of skeletal muscles of varying distribution and severity
                                            • Genetic mutation of proteins involved in induction of muscular contractile force &/or prevents muscular relaxation
                                            • Heart is involved in several muscular dystrophies
                                              • May be predominant manifestation
                                              • Due to shared proteins of cardiac and skeletal muscles

                                        IMAGING

                                        • General Features

                                          • CT Findings

                                            • MR Findings

                                              • Imaging Recommendations

                                                DIFFERENTIAL DIAGNOSIS

                                                  PATHOLOGY

                                                  • Molecular Basis

                                                    CLINICAL ISSUES

                                                    • Presentation

                                                      • Natural History & Prognosis

                                                        • Treatment

                                                          DIAGNOSTIC CHECKLIST

                                                          • Consider

                                                            • Image Interpretation Pearls

                                                              Selected References

                                                              1. Magrath P et al: Cardiac MRI biomarkers for Duchenne muscular dystrophy. Biomark Med. ePub, 2018
                                                              2. Marty B et al: Comprehensive evaluation of structural and functional myocardial impairments in Becker muscular dystrophy using quantitative cardiac magnetic resonance imaging. Eur Heart J Cardiovasc Imaging. ePub, 2018
                                                              3. Power LC et al: Imaging the heart to detect cardiomyopathy in Duchenne muscular dystrophy: A review. Neuromuscul Disord. 28(9):717-730, 2018
                                                              4. Siegel B et al: Myocardial Strain Using Cardiac MR Feature Tracking and Speckle Tracking Echocardiography in Duchenne Muscular Dystrophy Patients. Pediatr Cardiol. 39(3):478-483, 2018
                                                              5. Kalisz K et al: Computed tomography of cardiomyopathies. Cardiovasc Diagn Ther. 7(5):539-556, 2017
                                                              6. Roller FC et al: Value of Cardiac T1-Mapping and ECV Quantification in Duchenne Muscular Dystrophy (DMD): Case Report, Typical Imaging Findings and Review of the Literature. Rofo. 189(1):75-77, 2017
                                                              7. Choudhary P et al: Structural and electrical cardiac abnormalities are prevalent in asymptomatic adults with myotonic dystrophy. Heart. 102(18):1472-8, 2016
                                                              8. Olivieri LJ et al: Native T1 values identify myocardial changes and stratify disease severity in patients with Duchenne muscular dystrophy. J Cardiovasc Magn Reson. 18(1):72, 2016
                                                              9. Brunklaus A et al: The value of cardiac MRI versus echocardiography in the pre-operative assessment of patients with Duchenne muscular dystrophy. Eur J Paediatr Neurol. 19(4):395-401, 2015
                                                              10. Soslow JH et al: Evaluation of post-contrast myocardial t1 in duchenne muscular dystrophy using cardiac magnetic resonance imaging. Pediatr Cardiol. 36(1):49-56, 2015
                                                              11. Tandon A et al: Dystrophin genotype-cardiac phenotype correlations in Duchenne and Becker muscular dystrophies using cardiac magnetic resonance imaging. Am J Cardiol. 115(7):967-71, 2015
                                                              12. Tandon A et al: Myocardial fibrosis burden predicts left ventricular ejection fraction and is associated with age and steroid treatment duration in duchenne muscular dystrophy. J Am Heart Assoc. 4(4), 2015
                                                              13. Florian A et al: Left ventricular systolic function and the pattern of late-gadolinium-enhancement independently and additively predict adverse cardiac events in muscular dystrophy patients. J Cardiovasc Magn Reson. 16(1):81, 2014
                                                              14. Otto RK et al: Cardiac MRI in muscular dystrophy: an overview and future directions. Phys Med Rehabil Clin N Am. 23(1):123-32, xi-xii, 2012
                                                              15. Verhaert D et al: Cardiac involvement in patients with muscular dystrophies: magnetic resonance imaging phenotype and genotypic considerations. Circ Cardiovasc Imaging. 4(1):67-76, 2011
                                                              16. Taylor AJ et al: ACCF/SCCT/ACR/AHA/ASE/ASNC/NASCI/SCAI/SCMR 2010 Appropriate Use Criteria for Cardiac Computed Tomography. A Report of the American College of Cardiology Foundation Appropriate Use Criteria Task Force, the Society of Cardiovascular Computed Tomography, the American College of Radiology, the American Heart Association, the American Society of Echocardiography, the American Society of Nuclear Cardiology, the North American Society for Cardiovascular Imaging, the Society for Cardiovascular Angiography and Interventions, and the Society for Cardiovascular Magnetic Resonance. J Cardiovasc Comput Tomogr. 4(6):407.e1-33, 2010
                                                              17. Emery AE: Muscular dystrophy into the new millennium. Neuromuscul Disord. 12(4):343-9, 2002
                                                              18. Buckley AE et al: Cardiac involvement in Emery Dreifuss muscular dystrophy: a case series. Heart. 82(1):105-8, 1999
                                                              19. T1 mapping in Becker muscular dystrophy patients detects diffuse microfibrosis prior to evidence of late gadolinium enhancement or cardiac dysfunction