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World J Cardiol. Jul 26, 2015; 7(7): 410-414
Published online Jul 26, 2015. doi: 10.4330/wjc.v7.i7.410
Cardiac involvement in Duchenne and Becker muscular dystrophy
Sophie Mavrogeni, George Markousis-Mavrogenis, Antigoni Papavasiliou, Genovefa Kolovou
Sophie Mavrogeni, George Markousis-Mavrogenis, Genovefa Kolovou, Cardiology Department, Onassis Cardiac Surgery Center, 17674 Athens, Greece
Antigoni Papavasiliou, Department Pediatric Neurology, Pentelis Children Hospital, 15236 Athens, Greece
Author contributions: All the authors contributed to this manuscript.
Conflict-of-interest statement: The authors declear no conflicts of interest.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Sophie Mavrogeni, MD, FESC, Cardiology Department, Onassis Cardiac Surgery Center, 50 Esperou Street, 175-61 P Faliro, 17674 Athens, Greece. soma13@otenet.gr
Telephone: +30-210-9882797 Fax: +30-210-9882797
Received: March 4, 2015
Peer-review started: March 4, 2015
First decision: March 20, 2015
Revised: April 14, 2015
Accepted: April 28, 2015
Article in press: April 30, 2015
Published online: July 26, 2015
Processing time: 152 Days and 22.6 Hours
Abstract

Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked muscular diseases responsible for over 80% of all muscular dystrophies. Cardiac disease is a common manifestation, not necessarily related to the degree of skeletal myopathy; it may be the predominant manifestation with or without any other evidence of muscular disease. Death is usually due to ventricular dysfunction, heart block or malignant arrhythmias. Not only DMD/BMD patients, but also female carriers may present cardiac involvement. Clinically overt heart failure in dystrophinopathies may be delayed or absent, due to relative physical inactivity. The commonest electrocardiographic findings include conduction defects, arrhythmias (supraventricular or ventricular), hypertrophy and evidence of myocardial necrosis. Echocardiography can assess a marked variability of left ventricular dysfunction, independently of age of onset or mutation groups. Cardiovascular magnetic resonance (CMR) has documented a pattern of epicardial fibrosis in both dystrophinopathies’ patients and carriers that can be observed even if overt muscular disease is absent. Recently, new CMR techniques, such as postcontrast myocardial T1 mapping, have been used in Duchenne muscular dystrophy to detect diffuse myocardial fibrosis. A combined approach using clinical assessment and CMR evaluation may motivate early cardioprotective treatment in both patients and asymptomatic carriers and delay the development of serious cardiac complications.

Keywords: Muscular dystrophies; Electrocardiography; Heart failure; Echocardiography; Cardiovascular magnetic resonance imaging

Core tip: Duchenne and Becker muscular dystrophy are the commonest X-linked muscular diseases. Death is usually due to cardiac disease including ventricular dysfunction, heart block or malignant arrhythmias. Female carriers may also present cardiac involvement. Overt heart failure may be delayed or absent. Electrocardiography findings include conduction defects, arrhythmias and myocardial necrosis. Echocardiography assesses a marked variability of left ventricular dysfunction. Epicardial fibrosis in both patients and carriers has been documented by Cardiovascular Magnetic Resonance (CMR), even if overt muscular disease is absent. A combined approach using clinical and CMR assessment may motivate early cardioprotective treatment and delay serious cardiac complications.