[Cardiac involvement in Duchenne muscular dystrophy].
Duchenne muscular dystrophy (DMD) is an X-linked hereditary dystrophinopathy due to the absence of dystrophin, a cytoskeleton protein; it is the most frequent of the dystrophinopathies. DMD affects one newborn boy in 3500. The disease locus is found on the short arm of the X chromosome (Xp21). Dystrophin plays an important role in the maintenance of the cellular architecture and permits signal transduction between the cytoskeleton and the extracellular matrix. Its absence is expressed by peripheral muscular damage, most often at the pelvic girdle, and sometimes associated with pseudohypertrophy of the calf. The disease is very often complicated by cardiac damage that develops towards the end of adolescence, together with restrictive lung disease that will usually end up requiring respiratory support. The prognosis is severe. Doppler examination of the myocardial tissue helps to screen for subclinical myocardial damage. Therapeutic management is multidisciplinary. Medical treatment of cardiac involvement relies on the drugs already proved effective in chronic heart failure. Ongoing research is currently studying gene therapy.
Fayssoil
Abdallah
A
Service de cardiologie, Hôpital européen Georges Pompidou, F-75015 Paris, France. fayssoil2000@yahoo.fr
Orlikowski
David
D
Nardi
Olivier
O
Annane
Djillali
D
D009202:Cardiomyopathies / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D015150:Echocardiography, Doppler; D006579:Heterozygote; D006801:Humans; D020388:Muscular Dystrophy, Duchenne / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D012131:Respiratory Insufficiency / Q000209:etiology / Q000628:therapy