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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy.

A cross-sectional study in a cohort of DNA proven carriers of Duchenne ( DMD) and Becker ( BMD) muscular dystrophy was undertaken with the following objectives: (1) to estimate the frequency of electrocardiographic (ECG) and echocardiographic abnormalities; (2) to establish the proportion of carriers with dilated cardiomyopathy and (3) to assess possible associations between dilated cardiomyopathy and genotype. One hundred and twenty nine DMD and BMD carriers, aged 18-60 years, were traced through the files of the central register kept at the department of Human Genetics in Leiden. Investigations included full medical history, physical examination, ECG and two-dimensional and M-mode echocardiographic examination. Forty-seven percent had ECG changes. Thirty-six percent ( DMD 41%, BMD 27%) had at least one abnormality as is usually found in the male patients. Echocardiographic examination was abnormal in 36% ( DMD 38%, BMD 34%). Dilated cardiomyopathy was found in seven DMD carriers (8%), and in none of BMD carriers. In addition, 18% had left ventricle dilatation ( DMD 19%, BMD 16%). Only 38% had a completely normal investigation of the heart. We found no association between genotype and cardiac manifestations. Our study underlines that cardiac involvement is part of the dystrophinopathies. Carriers should be told about the increased risk of this complication when asking genetic advice. It also implicates that a complete cardiological evaluation should be performed at least once in all carriers. If left ventricle dilatation or dilated cardiomyopathy is present a yearly follow up is needed, in order to start timely therapy.[1]


  1. Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy. Hoogerwaard, E.M., van der Wouw, P.A., Wilde, A.A., Bakker, E., Ippel, P.F., Oosterwijk, J.C., Majoor-Krakauer, D.F., van Essen, A.J., Leschot, N.J., de Visser, M. Neuromuscul. Disord. (1999) [Pubmed]
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