CARDIOMYOPATHY AND LEFT VENTRICULAR STRUCTURAL REMODELING IN DUCHENNE MUSCULAR DYSTROPHY CARRIERS

Duchenne muscle dystrophy (DMD) accounts for over 80 percent of muscle dystrophies due to x-linked muscle diseases. A common event not necessarily linked to skeletal myopathy is a heart disease; the predominant manifestation can be muscle disease with or without any other evidence. Usually, death comes from ventricular dysfunction, blockage of the heart, or malignancy. For DMD patients, it may be not only cardiac involvement but also for female carriers. Clinical open heart failure in dystrophinopathy may or may not be delayed due to relative physical inactivity. Conduction defects, arrhythms (supraventricular or ventricular), hypertrophy and evidence of myocardial necrosis are commonly found in electrocardiography. Significant variability of left ventricular dysfunction may be assessed by echocardiography, irrespective of the age of onset or the mutation group. Cardiovascular Magnetic Resonance (CMR) has been documented in both patients and carriers of dystrophinopathy to observe a pattern of epicardial fibrosis, even if there is no apparent muscular disease. New CMR techniques for the detection of diffuse myocardial fibrosis have recently been applied in Duchenne muscle dystrophy, such as postcontrast myocardial T1 mapping. Combined medical and CMR evaluations can motivate early cardioprotective therapy and retard the development of serious heart complications in patients and asymptomatic carriers. Keywords: duchenne muscular dystrophy, Muscular dystrophies, dilated cardiomyopathy, Echocardiography, Heart failure