Cardiac Involvement in Duchenne Muscular Dystrophy and Related Dystrophinopathies

  • Sophie I. Mavrogeni
  • George Markousis-Mavrogenis
  • Antigoni Papavasiliou
  • George Papadopoulos
  • Genovefa Kolovou
Protocol
Part of the Methods in Molecular Biology book series (MIMB, volume 1687)

Abstract

Dystrophinopathies include Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy (XLCM), and facioscapulohumeral muscular dystrophy (FSHD). DMD/BMD are X-linked recessive disorders, related to the synthesis of dystrophin. Most of DMD after the third decade of their age develop cardiomyopathy that remains silent, due to relative physical inactivity. Cardiac disease in female carriers presents with hypertrophy, arrhythmias or dilated cardiomyopathy, clinically overt by increasing age.

In ECG, DMD presents increased R/S ratio in the right precordial leads, deep Q waves in the lateral leads, conduction abnormalities, and arrhythmias. Echocardiography, although widely available and inexpensive, is highly depended on the acoustic window and operator’s experience. Tissue Doppler can be used to identify early changes of cardiomyopathy and detect progressive cardiac damage. CMR, a noninvasive, nonradiating technique, by evaluation of cardiac volumes, mass, ejection fraction, inflammation, and fibrosis, is ideal for early diagnosis. Subepicardial fibrosis in the inferolateral wall is the typical CMR lesion in DMD/BMD.

Early initiation of angiotensin converting enzyme inhibitors (ACEI) treatment, such as perindopril, was associated with lower mortality in DMD with normal LV ejection fraction at study entry. Other studies documented that a beta-blocker (BB), in addition to ACEI, improves LV systolic function in MD. These encouraging results recommend initiation of ACEI and/or BB early after diagnosis of the muscular dystrophy, especially in DMD.

Key words

Muscular dystrophinopathies Heart failure ECG Echocardiography 24 h Holter recording Cardiovascular magnetic resonance imaging 

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Copyright information

© Springer Science+Business Media LLC 2018

Authors and Affiliations

  • Sophie I. Mavrogeni
    • 1
  • George Markousis-Mavrogenis
    • 1
  • Antigoni Papavasiliou
    • 2
  • George Papadopoulos
    • 3
  • Genovefa Kolovou
    • 1
  1. 1.Onassis Cardiac Surgery CenterAthensGreece
  2. 2.Pentelis Children’s HospitalAthensGreece
  3. 3.Agia Sofia Children’s HospitalAthensGreece

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